"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATP1A3"[g - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 468604	NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 1100969	NM_152296.5(ATP1A3):c.2946C>T (p.Phe982=)	ATP1A3	Single nucleotide variant (synonymous variant)	ATP1A3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 700045	NM_152296.5(ATP1A3):c.2895C>T (p.Asp965=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +1 more	GLikely benign
Select item 1020197	NM_152296.5(ATP1A3):c.2887G>A (p.Gly963Ser)	ATP1A3 (G963S +2 more)	Single nucleotide variant (missense variant)	ATP1A3-related disorder +1 more	GUncertain significance
Select item 468601	NM_152296.5(ATP1A3):c.2856G>A (p.Thr952=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 37110	NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)	ATP1A3 (G947R +2 more)	Single nucleotide variant (missense variant)	ATP1A3-related disorder +4 more	GPathogenic
Select item 1187271	NM_152296.5(ATP1A3):c.2676C>T (p.Tyr892=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 468600	NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile)	ATP1A3 (V885I +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2505009	NM_152296.5(ATP1A3):c.2491A>T (p.Thr831Ser)	ATP1A3 (T831S +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +2 more	GUncertain significance
Select item 329404	NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 1111534	NM_152296.5(ATP1A3):c.2457C>T (p.Ser819=)	ATP1A3	Single nucleotide variant (synonymous variant)	ATP1A3-related disorder +1 more	GLikely benign
Select item 329405	NM_152296.5(ATP1A3):c.2419-7C>T	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12 +5 more	GBenign/Likely benign
Select item 37107	NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)	ATP1A3 (D801N +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 329406	NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 1142314	NM_152296.5(ATP1A3):c.2331C>T (p.Ile777=)	ATP1A3	Single nucleotide variant (synonymous variant)	ATP1A3-related disorder +1 more	GLikely benign
Select item 157925	NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +6 more	GBenign
Select item 697244	NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1623474	NM_152296.5(ATP1A3):c.2139C>T (p.Pro713=)	ATP1A3	Single nucleotide variant (synonymous variant)	ATP1A3-related disorder +1 more	GLikely benign
Select item 3050748	NM_152296.5(ATP1A3):c.2124T>C (p.Gly708=)	ATP1A3	Single nucleotide variant (synonymous variant)	ATP1A3-related disorder	GLikely benign
Select item 696523	NM_152296.5(ATP1A3):c.2095-10C>T	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12 +1 more	GBenign/Likely benign
Select item 1150432	NM_152296.5(ATP1A3):c.2025C>T (p.His675=)	ATP1A3	Single nucleotide variant (synonymous variant)	ATP1A3-related disorder +1 more	GLikely benign
Select item 698498	NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign/Likely benign
Select item 3029117	NM_152296.5(ATP1A3):c.1943+9C>T	ATP1A3	Single nucleotide variant (intron variant)	ATP1A3-related disorder	GLikely benign
Select item 329410	NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile)	ATP1A3 (V642I +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +2 more	GConflicting classifications of pathogenicity
Select item 705560	NM_152296.5(ATP1A3):c.1821C>T (p.Thr607=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 742882	NM_152296.5(ATP1A3):c.1773C>T (p.Asp591=)	ATP1A3	Single nucleotide variant (synonymous variant)	ATP1A3-related disorder +1 more	GLikely benign
Select item 3061309	NM_152296.5(ATP1A3):c.1579_1582del (p.Ala527fs)	ATP1A3 (A527fs +2 more)	Deletion (frameshift variant)	ATP1A3-related disorder	GLikely pathogenic
Select item 377531	NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)	ATP1A3 (R463C +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2631478	NM_152296.5(ATP1A3):c.1349T>G (p.Ile450Ser)	ATP1A3 (I450S +2 more)	Single nucleotide variant (missense variant)	ATP1A3-related disorder	GUncertain significance
Select item 625891	NM_152296.5(ATP1A3):c.1192+7G>A	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12 +4 more	GConflicting classifications of pathogenicity
Select item 329422	NM_152296.5(ATP1A3):c.994-3C>G	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12 +5 more	GConflicting classifications of pathogenicity
Select item 536480	NM_152296.5(ATP1A3):c.994-9G>A	ATP1A3	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1141571	NM_152296.5(ATP1A3):c.993+9A>T	ATP1A3	Single nucleotide variant (intron variant)	ATP1A3-related disorder +1 more	GLikely benign
Select item 1437123	NM_152296.5(ATP1A3):c.775C>T (p.Arg259Cys)	ATP1A3 (R259C +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +1 more	GUncertain significance
Select item 1108200	NM_152296.5(ATP1A3):c.708C>T (p.Ser236=)	ATP1A3	Single nucleotide variant (synonymous variant)	ATP1A3-related disorder +1 more	GLikely benign
Select item 2632855	NM_152296.5(ATP1A3):c.566T>C (p.Val189Ala)	ATP1A3 (V189A +2 more)	Single nucleotide variant (missense variant)	ATP1A3-related disorder	GUncertain significance
Select item 329426	NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 329428	NM_152296.5(ATP1A3):c.288C>T (p.Ile96=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +5 more	GBenign/Likely benign
Select item 468596	NM_152296.5(ATP1A3):c.192G>A (p.Arg64=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 468595	NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln)	ATP1A3 (R64Q +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1652404	NM_152296.5(ATP1A3):c.93+10G>A	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12 +1 more	GLikely benign
Select item 1089046	NM_152296.5(ATP1A3):c.69T>C (p.Asp23=)	ATP1A3	Single nucleotide variant (synonymous variant)	ATP1A3-related disorder +1 more	GLikely benign
Select item 1149449	NM_152296.5(ATP1A3):c.63C>T (p.Asp21=)	ATP1A3	Single nucleotide variant (synonymous variant)	ATP1A3-related disorder +1 more	GLikely benign
Select item 1664671	NM_152296.5(ATP1A3):c.7-17G>A	ATP1A3 (R10H)	Single nucleotide variant (missense variant +1 more)	Dystonia 12 +1 more	GLikely benign
Select item 623955	NM_152296.5(ATP1A3):c.6+644G>A	ATP1A3 (G2E)	Single nucleotide variant (missense variant +1 more)	ATP1A3-related disorder +1 more	GUncertain significance
Select item 329434	NM_152296.5(ATP1A3):c.6+3A>G	ATP1A3, LOC130064543	Single nucleotide variant (intron variant)	Dystonia 12 +7 more	GBenign/Likely benign

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Items: 46