ClinVar for MedGen (Select 318633) - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627893	NM_152296.5(ATP1A3):c.808G>A (p.Gly270Ser)	ATP1A3 (G270S +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	GLikely benign
Select item 2431681	NM_152296.5(ATP1A3):c.659A>T (p.Asp220Val)	ATP1A3 (D220V +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	GUncertain significance
Select item 1878556	NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)	ATP1A3 (L948R +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	GUncertain significance
Select item 1802594	NM_152296.5(ATP1A3):c.265G>T (p.Gly89Cys)	ATP1A3 (G100C +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	GLikely pathogenic
Select item 1802273	NM_152296.5(ATP1A3):c.2749G>C (p.Val917Leu)	ATP1A3 (V917L +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	GUncertain significance
Select item 1693177	NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu)	ATP1A3 (F235L +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2 +3 more	GBenign
Select item 1686544	NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln)	ATP1A3 (E517Q +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +2 more	GConflicting classifications of pathogenicity
Select item 1673313	NM_152296.5(ATP1A3):c.1218C>T (p.His406=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +3 more	GLikely benign
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 1584642	NM_152296.5(ATP1A3):c.2418+18C>T	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12 +3 more	GLikely benign
Select item 1435191	NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr)	ATP1A3 (A636T +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +3 more	GConflicting classifications of pathogenicity
Select item 1333833	NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg)	ATP1A3 (Q851R +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +1 more	GLikely pathogenic
Select item 1243469	NM_152296.5(ATP1A3):c.2921+11C>T	ATP1A3	Single nucleotide variant (intron variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign
Select item 1240458	NM_152296.5(ATP1A3):c.1944-20G>T	ATP1A3	Single nucleotide variant (intron variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign
Select item 1167207	NM_152296.5(ATP1A3):c.2819+20G>A	ATP1A3	Single nucleotide variant (intron variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign
Select item 1127137	NM_152296.5(ATP1A3):c.384C>G (p.Ala128=)	ATP1A3	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 99 +3 more	GLikely benign
Select item 1110857	NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +3 more	GLikely benign
Select item 1031255	NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser)	ATP1A3 (A468S +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	GUncertain significance
Select item 976730	NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile)	ATP1A3 (T771I +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	GPathogenic
Select item 894477	NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +3 more	GBenign/Likely benign
Select item 893302	NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=)	ATP1A3	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 99 +3 more	GBenign/Likely benign
Select item 893013	NM_152296.5(ATP1A3):c.*247C>T	ATP1A3	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign
Select item 807377	NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala)	ATP1A3 (G859A +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	GLikely pathogenic
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 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 698338	NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=)	ATP1A3	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 99 +4 more	GBenign
Select item 698029	NM_152296.5(ATP1A3):c.1134C>T (p.Val378=)	ATP1A3	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 99 +4 more	GBenign/Likely benign
Select item 697816	NM_152296.5(ATP1A3):c.741G>C (p.Val247=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +4 more	GBenign/Likely benign
Select item 697244	NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +5 more	GBenign/Likely benign
Select item 697133	NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=)	ATP1A3	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 99 +3 more	GBenign/Likely benign
Select item 696594	NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=)	ATP1A3	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 99 +4 more	GBenign
Select item 696435	NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=)	ATP1A3	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 99 +4 more	GLikely benign
Select item 695996	NM_152296.5(ATP1A3):c.1192+3G>A	ATP1A3	Single nucleotide variant (intron variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 689735	NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)	ATP1A3 (G947W +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +2 more	GPathogenic/Likely pathogenic
Select item 625892	NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +3 more	GConflicting classifications of pathogenicity
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 536477	NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign
Select item 468607	NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +4 more	GBenign/Likely benign
Select item 468604	NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +5 more	GBenign
Select item 468603	NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +5 more	GBenign/Likely 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 468597	NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +3 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 +5 more	GBenign/Likely benign
Select item 468593	NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 431156	NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr)	ATP1A3 (D742Y +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	GLikely pathogenic
Select item 431154	NM_152296.5(ATP1A3):c.460A>G (p.Met154Val)	ATP1A3 (M154V +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	GLikely pathogenic
Select item 425189	NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	ATP1A3 (R756C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
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 413801	NM_152296.5(ATP1A3):c.994-4C>G	ATP1A3	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 2 +3 more	GBenign/Likely benign
Select item 383177	NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile)	ATP1A3 (V990I +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +4 more	GUncertain significance
Select item 372799	NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)	ATP1A3 (G706R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99 +4 more	GConflicting classifications of pathogenicity
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
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 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 329434	NM_152296.5(ATP1A3):c.6+3A>G	ATP1A3, LOC130064543	Single nucleotide variant (intron variant)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 329432	NM_152296.5(ATP1A3):c.147T>C (p.Cys49=)	ATP1A3	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 329430	NM_152296.5(ATP1A3):c.207A>T (p.Ala69=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 329428	NM_152296.5(ATP1A3):c.288C>T (p.Ile96=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +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 329426	NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +5 more	GBenign/Likely benign
Select item 329423	NM_152296.5(ATP1A3):c.909C>T (p.Leu303=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +3 more	GBenign/Likely benign
Select item 329422	NM_152296.5(ATP1A3):c.994-3C>G	ATP1A3	Single nucleotide variant (intron variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +5 more	GConflicting classifications of pathogenicity
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 329419	NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign
Select item 329417	NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +4 more	GBenign/Likely benign
Select item 329416	NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 329415	NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 329411	NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +3 more	GBenign/Likely benign
Select item 329409	NM_152296.5(ATP1A3):c.1943+12A>T	ATP1A3	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 329406	NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=)	ATP1A3	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 99 +5 more	GBenign
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 +5 more	GBenign/Likely benign
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 329403	NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +4 more	GBenign
Select item 329401	NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +3 more	GBenign/Likely benign
Select item 329400	NM_152296.5(ATP1A3):c.*39C>G	ATP1A3	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +3 more	GBenign
Select item 329399	NM_152296.5(ATP1A3):c.*106T>C	ATP1A3	Single nucleotide variant (3 prime UTR variant)	Dystonia 12 +4 more	GBenign/Likely benign
Select item 329395	NM_152296.5(ATP1A3):c.*315G>A	ATP1A3	Single nucleotide variant (3 prime UTR 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)	not specified +5 more	GBenign
Select item 218558	NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)	ATP1A3 (P323S +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +2 more	GPathogenic/Likely pathogenic
Select item 216891	NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp)	ATP1A3 (G325D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 161134	NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)	ATP1A3 (R756H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 157926	NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +4 more	GBenign/Likely 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 156238	NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)	ATP1A3 (E818K +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GPathogenic
Select item 37110	NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)	ATP1A3 (G947R +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 37108	NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)	ATP1A3 (E815K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99 +13 more	GPathogenic
Select item 37107	NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)	ATP1A3 (D801N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic
Select item 12915	NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)	ATP1A3 (D923N +2 more)	Single nucleotide variant (missense variant)	ATP1A3-associated neurological disorder +4 more	GPathogenic

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Items: 88