|
SCN5A
(HGNC:10593)
|
short QT syndrome
(MONDO_0000453)
|
Disputed
|
|
|
SCN4A
(HGNC:10591)
|
congenital myopathy
(MONDO_0019952)
|
Strong
|
|
|
SCN4B
(HGNC:10592)
|
long QT syndrome
(MONDO_0002442)
|
Limited
|
|
|
SCN3A
(HGNC:10590)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Moderate
|
|
|
SCN4A
(HGNC:10591)
|
potassium-aggravated myotonia
(MONDO_0018959)
|
Strong
|
|
|
SCN4A
(HGNC:10591)
|
hypokalemic periodic paralysis, type 2
(MONDO_0013234)
|
Strong
|
|
|
BLM
(HGNC:1058)
|
hereditary nonpolyposis colon cancer
(MONDO_0018630)
|
Limited
|
|
|
SCN4A
(HGNC:10591)
|
hyperkalemic periodic paralysis
(MONDO_0008224)
|
Definitive
|
|
|
SCN4A
(HGNC:10591)
|
hypokalemic periodic paralysis
(MONDO_0008223)
|
Definitive
|
|
|
BLM
(HGNC:1058)
|
Bloom syndrome
(MONDO_0008876)
|
Definitive
|
|
|
BLM
(HGNC:1058)
|
osteosarcoma
(MONDO_0009807)
|
Limited
|
|
|
SCN4A
(HGNC:10591)
|
paramyotonia congenita of Von Eulenburg
(MONDO_0008195)
|
Definitive
|
|
|
BLM
(HGNC:1058)
|
breast cancer
(MONDO_0007254)
|
Disputed
|
|
|
SCN2B
(HGNC:10589)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
SCN2A
(HGNC:10588)
|
West syndrome
(MONDO_0018097)
|
Moderate
|
|
|
SCN2A
(HGNC:10588)
|
benign familial infantile epilepsy
(MONDO_0017615)
|
Strong
|
|
|
SCN2A
(HGNC:10588)
|
seizures, benign familial infantile, 3
(MONDO_0011904)
|
Strong
|
|
|
SCN2A
(HGNC:10588)
|
malignant migrating partial seizures of infancy
(MONDO_0017385)
|
Limited
|
|
|
SCN2A
(HGNC:10588)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
SCN2A
(HGNC:10588)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|