| RS2513694164 |
FTL
|
Health Risk |
Pathogenic |
Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts |
| RS2513696390 |
FTL
|
Health Risk |
Pathogenic |
Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts |
| RS2513702567 |
PIGN
|
Health Risk |
Pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS2513703489 |
BPTF
|
Health Risk |
Pathogenic |
See cases, See cases |
| RS2513704213 |
WDR62
|
Health Risk |
Likely pathogenic |
Microcephaly 2, primary |
| RS2513705006 |
BPTF
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS2513708527 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2513708889 |
CACNA1A
|
Health Risk |
Pathogenic |
— |
| RS2513709034 |
CACNA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 42 |
| RS2513709042 |
CACNA1A
|
Health Risk |
Likely pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2513709839 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Episodic ataxia type 2 |
| RS2513710096 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2513710454 |
CACNA1A
|
Health Risk |
Pathogenic |
Auditory neuropathy, Auditory neuropathy |
| RS2513710502 |
GYS1
|
Health Risk |
Pathogenic |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS2513716650 |
GYS1
|
Health Risk |
Pathogenic |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS2513728771 |
PIGN
|
Health Risk |
Pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS2513729083 |
GYS1
|
Health Risk |
Likely pathogenic |
GYS1-related disorder, GYS1-related disorder |
| RS2513733818 |
RTN2
|
Health Risk |
Likely pathogenic |
— |
| RS2513737311 |
GYS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, GYS1-related disorder |
| RS2513738067 |
DIAPH1
|
Health Risk |
Pathogenic |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS2513740146 |
RTN2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 12, Spastic paraplegia |
| RS2513742001 |
RTN2
|
Health Risk |
Pathogenic |
Neuronopathy, distal hereditary motor |
| RS2513743643 |
RTN2
|
Health Risk |
Pathogenic |
Neuronopathy, distal hereditary motor |
| RS2513743882 |
RTN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 12, Hereditary spastic paraplegia 12 |
| RS2513744398 |
WDR62
|
Health Risk |
Likely pathogenic |
WDR62-related disorder, WDR62-related disorder |
| RS2513746067 |
DIAPH1
|
Health Risk |
Pathogenic |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1 |
| RS2513749288 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513749291 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513749468 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513754603 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513754818 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513755430 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513755521 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513755545 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513755593 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513755853 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513755877 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513756456 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513756697 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513757356 |
MYH14
|
Health Risk |
Pathogenic |
— |
| RS2513758387 |
WDR62
|
Health Risk |
Pathogenic |
Microcephaly 2, primary |
| RS2513761918 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513761944 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513764771 |
DIAPH1
|
Health Risk |
Likely pathogenic |
Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder |
| RS2513765668 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513765764 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513765778 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513765812 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513765932 |
NPHS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513766196 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513766216 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513766220 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513766222 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513766238 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513766258 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513768304 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513768306 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513768382 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513768400 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513768554 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513769018 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513769039 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513769058 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513769085 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513769124 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513769198 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513769207 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513769229 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513769378 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513769477 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513769522 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513769577 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513769591 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513770468 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513770560 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513771412 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513771571 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513771606 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513771832 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513771847 |
PIGN
|
Health Risk |
Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS2513771917 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513771955 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513772078 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513773063 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513773078 |
NPHS1
|
Health Risk |
Likely pathogenic |
Congenital and infantile nephrotic syndrome, Congenital and infantile nephrotic syndrome |
| RS2513773091 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513773107 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513773227 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513773230 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513773320 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513773323 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513773327 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513773730 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513773731 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513773831 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513774191 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513774296 |
NPHS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513774314 |
NPHS1
|
Health Risk |
Pathogenic |
— |
| RS2513774352 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2513774476 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |