| RS2513776383 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513776396 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513776415 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513776469 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513776700 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513776885 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513776980 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513776999 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513777707 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513777740 |
WDR62
|
Health Risk |
Pathogenic |
— |
| RS2513777815 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513778066 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513778718 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513778741 |
NPHS1
|
Health Risk |
Pathogenic |
NPHS1-related disorder, NPHS1-related disorder |
| RS2513778796 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513778871 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513778898 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513779127 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513779314 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513779373 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513779821 |
NPHS1
|
Health Risk |
Likely pathogenic |
— |
| RS2513779823 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513779861 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513782114 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513782223 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513782246 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513782308 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513783774 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513783827 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513783839 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513783903 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513783938 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513784037 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513784716 |
NPHS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513784798 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513784818 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513785055 |
NPHS1
|
Health Risk |
Likely pathogenic |
— |
| RS2513785174 |
NPHS1
|
Health Risk |
Likely pathogenic |
— |
| RS2513785351 |
WDR62
|
Health Risk |
Likely pathogenic |
Microcephaly 2, primary |
| RS2513785558 |
NPHS1
|
Health Risk |
Likely pathogenic |
— |
| RS2513785701 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513785725 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513785791 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513785885 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513785913 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513786002 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513786012 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513786157 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513786164 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513786247 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513786263 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513786285 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513786291 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513786321 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513786480 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513786500 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513786564 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513787109 |
GPI
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis, Hereditary spherocytosis |
| RS2513787170 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513787207 |
ACP4
|
Health Risk |
Likely pathogenic |
— |
| RS2513787289 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513787438 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513788270 |
WDR62
|
Health Risk |
Pathogenic |
Microcephaly 2, primary |
| RS2513789400 |
EMC10
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures |
| RS2513792624 |
EMC10
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures |
| RS2513795226 |
EMC10
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures |
| RS2513799489 |
KCNC3
|
Health Risk |
Likely pathogenic |
— |
| RS2513806065 |
WDR62
|
Health Risk |
Likely pathogenic |
Microcephaly 2, primary |
| RS2513811168 |
CIC
|
Health Risk |
Pathogenic |
Autosomal dominant non-syndromic intellectual disability, Autosomal dominant non-syndromic intellectual disability |
| RS2513815325 |
KASH5
|
Health Risk |
Pathogenic |
Spermatogenic failure 88, Premature ovarian failure 22 |
| RS2513823606 |
OPA3
|
Health Risk |
Likely pathogenic |
3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS2513824298 |
OPA3
|
Health Risk |
Likely pathogenic |
3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS2513824455 |
OPA3
|
Health Risk |
Conflicting classifications of pathogenicity |
3-Methylglutaconic aciduria type 3, Optic atrophy 3 |
| RS2513825652 |
GPI
|
Health Risk |
Likely pathogenic |
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS2513830025 |
GATAD2A
|
Health Risk |
Likely pathogenic |
GATAD2A-associated neurodevelopmental disorder, GATAD2A-associated neurodevelopmental disorder |
| RS2513839203 |
CIC
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 45 |
| RS2513846060 |
KASH5
|
Health Risk |
Pathogenic |
Spermatogenic failure 88, Spermatogenic failure 88 |
| RS2513850974 |
DIAPH1
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS2513851808 |
NOVA2
|
Health Risk |
Likely pathogenic |
NOVA2-related disorder, NOVA2-related disorder |
| RS2513852010 |
TCF3
|
Health Risk |
Likely pathogenic |
— |
| RS2513852016 |
NOVA2
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities |
| RS2513852929 |
NOVA2
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities |
| RS2513861191 |
OPA3
|
Health Risk |
Pathogenic |
3-Methylglutaconic aciduria type 3, Optic atrophy 3 |
| RS2513861253 |
OPA3
|
Health Risk |
Likely pathogenic |
3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3 |
| RS2513866462 |
EXOC3L2
|
Health Risk |
Likely pathogenic |
EXOC3L2-related brain malformations and/or renal disease, EXOC3L2-related brain malformations and/or renal disease |
| RS2513875542 |
CIC
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2513880015 |
GPI
|
Health Risk |
Likely pathogenic |
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS2513888704 |
FCHO1
|
Health Risk |
Pathogenic |
— |
| RS2513892504 |
CIC
|
Health Risk |
Likely pathogenic |
CIC-related disorder, CIC-related disorder |
| RS2513914636 |
PIGN
|
Health Risk |
Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS2513914766 |
PIGN
|
Health Risk |
Pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS2513919782 |
SHANK1
|
Health Risk |
Likely pathogenic |
SHANK1-related disorder, SHANK1-related disorder |
| RS2513929213 |
RYR1
|
Health Risk |
Likely pathogenic |
RYR1-related disorder, RYR1-related disorder |
| RS2513932327 |
SMARCA4
|
Health Risk |
Pathogenic |
Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2 |
| RS2513933048 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2513933082 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2513933516 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS2513935362 |
CIC
|
Health Risk |
Likely pathogenic |
CIC-related disorder, CIC-related disorder |
| RS2513935979 |
UBA2
|
Health Risk |
Pathogenic |
ACCES syndrome, ACCES syndrome |
| RS2513937989 |
TCF3
|
Health Risk |
Pathogenic |
— |