C3553788[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 383177	NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile)	ATP1A3 (V990I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99 +4 more	GUncertain significance
Select item 37110	NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)	ATP1A3 (G947R +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2 +3 more	GPathogenic
Select item 1641912	NM_152296.5(ATP1A3):c.2819+12G>A	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12 +3 more	GLikely benign
Select item 12915	NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)	ATP1A3 (D923N +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +5 more	GPathogenic
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 37108	NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)	ATP1A3 (E815K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +13 more	GPathogenic
Select item 329405	NM_152296.5(ATP1A3):c.2419-7C>T	ATP1A3	Single nucleotide variant (intron variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign/Likely benign
Select item 1584642	NM_152296.5(ATP1A3):c.2418+18C>T	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12 +3 more	GLikely benign
Select item 37107	NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)	ATP1A3 (D801N +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99 +6 more	GPathogenic
Select item 764514	NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +3 more	GLikely benign
Select item 696435	NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1110857	NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +3 more	GLikely benign
Select item 1673313	NM_152296.5(ATP1A3):c.1218C>T (p.His406=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +3 more	GLikely benign
Select item 1127137	NM_152296.5(ATP1A3):c.384C>G (p.Ala128=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +3 more	GLikely 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 468596	NM_152296.5(ATP1A3):c.192G>A (p.Arg64=)	ATP1A3	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 99 +4 more	GBenign/Likely benign
Select item 329435	NM_152296.5(ATP1A3):c.-64A>G	ATP1A3, LOC130064543	Single nucleotide variant (5 prime UTR variant)	Dystonia 12 +3 more	GUncertain significance
Select item 329436	NM_152296.5(ATP1A3):c.-130GACG[3]	ATP1A3, LOC130064543	Microsatellite (5 prime UTR variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GUncertain significance
Select item 329437	NM_152296.5(ATP1A3):c.-148T>G	ATP1A3, LOC130064543	Single nucleotide variant (5 prime UTR variant)	Alternating hemiplegia of childhood 2 +3 more	GUncertain significance