| - GRCh37:
- ChrX:99662472
- GRCh38:
- ChrX:100407474
| PCDH19 | D375V | Bilateral tonic-clonic seizure | Likely pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111748226
- GRCh38:
- Chr12:111310422
| CUX2 | G485E, G547E | Bilateral tonic-clonic seizure | Benign | no assertion criteria provided |
| - GRCh37:
- Chr7:75959548-75959549
- GRCh38:
- Chr7:76330231-76330232
| YWHAG | T31fs | Specific learning disability, Bilateral tonic-clonic seizure | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:11853977
- GRCh38:
- Chr1:11793920
| MTHFR | Y506C, Y547C | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | Uncertain significance
(Jan 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11852374-11852376
- GRCh38:
- Chr1:11792317-11792319
| MTHFR | K572del, K531del | Infantile spasms, Secondary microcephaly, Bilateral tonic-clonic seizure,
Spasticity, Global developmental delay | Pathogenic
(Nov 30, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:108679436
- GRCh38:
- Chr1:108136814
| SLC25A24 | L406M, L425M | Dementia, Bilateral tonic-clonic seizure | Uncertain significance
(Sep 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:108697669
- GRCh38:
- Chr1:108155047
| SLC25A24 | G234A, G253A | Dementia, Bilateral tonic-clonic seizure | Likely pathogenic
(Sep 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:52200828
- GRCh38:
- Chr12:51807044
| SCN8A | K1853T, K1812T | Bilateral tonic-clonic seizure | Uncertain significance
(Apr 11, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:99663105-99663106
- GRCh38:
- ChrX:100408107-100408108
| PCDH19 | Q164fs | Bilateral tonic-clonic seizure | Likely pathogenic
(Sep 22, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr10:95549894
- GRCh38:
- Chr10:93790137
| LGI1 | D157V, D109V | Seizure, Bilateral tonic-clonic seizure | Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |
| | | | High myopia, Unilateral ptosis, Delayed speech and language development,
Frequent falls, Motor delay, Short stature,
Upslanted palpebral fissure, Camptodactyly of finger, Interictal epileptiform activity,
Obesity, ClumsinessDevelopmental regression,
Intellectual disability, mild, Bilateral tonic-clonic seizure, Generalized myoclonic seizure,
Thin upper lip vermilion, ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:1718817
- GRCh38:
- Chr1:1787378
| GNB1 | A326T, A226T | Intellectual disability, autosomal dominant 42 | Likely pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:1735987
- GRCh38:
- Chr1:1804548
| GNB1 | M101V, M1V | Intellectual disability, autosomal dominant 42, not provided | Pathogenic/Likely pathogenic
(Jul 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:99662504-99662505
- GRCh38:
- ChrX:100407506-100407507
| PCDH19 | Y366fs | not provided, Bilateral tonic-clonic seizure, Global developmental delay,
Frontal cortical atrophy, Temporal cortical atrophy, Hand tremor,
Prominent fingertip pads, Delayed speech and language development, Long palpebral fissure,
Generalized non-motor (absence) seizure, Generalized-onset seizureStrabismus,
Developmental and epileptic encephalopathy, 9, ...see more | Pathogenic
(Oct 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:149243444
- GRCh38:
- Chr2:148485875
| MBD5 | Q993H, Q1226H | Bilateral tonic-clonic seizure, not provided, Intellectual disability, autosomal dominant 1
| Conflicting interpretations of pathogenicity
(Apr 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:131388212
- GRCh38:
- Chr9:128625933
| SPTAN1 | | Early infantile epileptic encephalopathy with suppression bursts, Inborn genetic diseases, not specified,
not provided, Developmental and epileptic encephalopathy, 5, Bilateral tonic-clonic seizure
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166872146
- GRCh38:
- Chr2:166015636
| LOC102724058, SCN1A | T1163S, T1174S, T360S, T1162S, T1145S, T1146S | not specified, Inborn genetic diseases, Early infantile epileptic encephalopathy with suppression bursts,
Epilepsy, Generalized epilepsy with febrile seizures plus, type 2, Migraine, familial hemiplegic, 3,
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure,
not provided, Severe myoclonic epilepsy in infancy ...see more | Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23555998
- GRCh38:
- Chr16:23544677
| EARS2 | R108W | Inborn genetic diseases, not provided, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,
Global developmental delay, High palate, Motor delay,
Limb tremor, Prominent forehead, Bilateral tonic-clonic seizure,
Abnormal facial shape, Abnormal pinna morphologySeizure,
See cases, ...see more | Pathogenic/Likely pathogenic
(Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |