Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr19:42490382
- GRCh38:
- Chr19:41986230
| ATP1A3 | | ATP1A3-associated neurological disorder | Likely pathogenic
(Jan 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42486176
- GRCh38:
- Chr19:41982024
| ATP1A3 | S372Y, S359Y, S370Y | ATP1A3-associated neurological disorder | Likely pathogenic
(Nov 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42490327-42490329
- GRCh38:
- Chr19:41986175-41986177
| ATP1A3 | S137del, S150del, S148del | not provided, Dystonia 12, ATP1A3-associated neurological disorder
| Conflicting interpretations of pathogenicity
(Nov 11, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42474691
- GRCh38:
- Chr19:41970539
| ATP1A3 | R756H, R769H, R767H | ATP1A3-associated neurological disorder, Inborn genetic diseases, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
not specified, not provided, Alternating hemiplegia of childhood 2,
Dystonia 12 | Pathogenic/Likely pathogenic
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42472989
- GRCh38:
- Chr19:41968837
| ATP1A3 | D923N, D936N, D934N | ATP1A3-associated neurological disorder, Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
Alternating hemiplegia of childhood 2, not provided, Alternating hemiplegia of childhood 2,
Dystonia 12 | Pathogenic
(Aug 10, 2023) | criteria provided, multiple submitters, no conflicts |