"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37108	NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)	ATP1A3 (E815K +2 more)	Single nucleotide variant (missense variant)	not provided +13 more	GPathogenic
Select item 37107	NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)	ATP1A3 (D801N +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2 +5 more	GPathogenic
Select item 1168868	NM_152296.5(ATP1A3):c.2264-16C>T	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GBenign
Select item 157924	NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +3 more	GConflicting classifications of pathogenicity
Select item 413802	NM_152296.5(ATP1A3):c.1193-4C>G	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12 +5 more	GBenign/Likely benign
Select item 329420	NM_152296.5(ATP1A3):c.1192+6C>T	ATP1A3	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 2 +3 more	GBenign/Likely benign
Select item 1209923	NM_152296.5(ATP1A3):c.994-20T>G	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GBenign
Select item 157926	NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign/Likely benign
Select item 329426	NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +5 more	GBenign/Likely benign
Select item 329427	NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign/Likely benign
Select item 329430	NM_152296.5(ATP1A3):c.207A>T (p.Ala69=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign/Likely benign