|
CALM2
(HGNC:1445)
|
long QT syndrome 15
(MONDO_0014550)
|
Moderate
|
|
|
CALM2
(HGNC:1445)
|
long QT syndrome
(MONDO_0002442)
|
Strong
|
|
|
TMEM237
(HGNC:14432)
|
Joubert syndrome
(MONDO_0018772)
|
Moderate
|
|
|
LPIN2
(HGNC:14450)
|
Majeed syndrome
(MONDO_0012316)
|
Strong
|
|
|
CALM1
(HGNC:1442)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Strong
|
|
|
SLC13A3
(HGNC:14430)
|
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
(MONDO_0032716)
|
Strong
|
|
|
ELOVL4
(HGNC:14415)
|
Stargardt disease
(MONDO_0019353)
|
Moderate
|
|
|
ELOVL4
(HGNC:14415)
|
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
(MONDO_0013760)
|
Moderate
|
|
|
CALM1
(HGNC:1442)
|
long QT syndrome 14
(MONDO_0014548)
|
Strong
|
|
|
ELOVL4
(HGNC:14415)
|
Stargardt disease 3
(MONDO_0010819)
|
Moderate
|
|
|
ELOVL4
(HGNC:14415)
|
spinocerebellar ataxia type 34
(MONDO_0007574)
|
Strong
|
|
|
SLC25A19
(HGNC:14409)
|
Amish lethal microcephaly
(MONDO_0011790)
|
Moderate
|
|
|
NHP2
(HGNC:14377)
|
dyskeratosis congenita
(MONDO_0015780)
|
Strong
|
|
|
SLC25A19
(HGNC:14409)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
ACTC1
(HGNC:143)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
NOP10
(HGNC:14378)
|
dyskeratosis congenita
(MONDO_0015780)
|
Moderate
|
|
|
ACTC1
(HGNC:143)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
HTRA2
(HGNC:14348)
|
3-methylglutaconic aciduria type 8
(MONDO_0044723)
|
Limited
|
|
|
ACP4
(HGNC:14376)
|
amelogenesis imperfecta type 1
(MONDO_0015047)
|
Strong
|
|
|
C1QTNF5
(HGNC:14344)
|
late-onset retinal degeneration
(MONDO_0011579)
|
Moderate
|
|