"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 536482	NM_152296.5(ATP1A3):c.2493G>A (p.Thr831=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 329404	NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)	ATP1A3	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 1168868	NM_152296.5(ATP1A3):c.2264-16C>T	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12 +1 more	GBenign
Select item 329409	NM_152296.5(ATP1A3):c.1943+12A>T	ATP1A3	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 99 +4 more	GBenign/Likely benign
Select item 157924	NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +3 more	GConflicting classifications of pathogenicity
Select item 1209923	NM_152296.5(ATP1A3):c.994-20T>G	ATP1A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 468607	NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
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 281502	NM_152296.5(ATP1A3):c.154-5C>G	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12 +5 more	GBenign