ClinVar for MedGen (Select 1794228) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066228	NM_152296.5(ATP1A3):c.1640A>C (p.His547Pro)	ATP1A3 (H547P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99	GUncertain significance
Select item 2664057	NM_152296.5(ATP1A3):c.2600G>T (p.Gly867Val)	ATP1A3 (G867V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99	GUncertain significance
Select item 1709226	NM_152296.5(ATP1A3):c.1807-2A>T	ATP1A3	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy 99	GPathogenic
Select item 1709014	NM_152296.5(ATP1A3):c.943A>T (p.Ile315Phe)	ATP1A3 (I315F +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99	GLikely pathogenic
Select item 1704277	NM_152296.5(ATP1A3):c.2479A>T (p.Arg827Trp)	ATP1A3 (R827W +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99	GPathogenic
Select item 1704276	NM_152296.5(ATP1A3):c.2552A>C (p.Gln851Pro)	ATP1A3 (Q851P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99	GPathogenic
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 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 1527883	NM_152296.5(ATP1A3):c.2686T>C (p.Trp896Arg)	ATP1A3 (W896R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99	GLikely pathogenic
Select item 1333676	NM_152296.5(ATP1A3):c.2415C>A (p.Asp805Glu)	ATP1A3 (D805E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99	GLikely pathogenic
Select item 1333662	NM_152296.5(ATP1A3):c.380C>T (p.Ala127Val)	ATP1A3 (A127V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99	GLikely pathogenic
Select item 1321206	NM_152296.5(ATP1A3):c.1081T>C (p.Ser361Pro)	ATP1A3 (S361P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99	GPathogenic
Select item 1321205	NM_152296.5(ATP1A3):c.947G>T (p.Gly316Val)	ATP1A3 (G316V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99	GPathogenic
Select item 1321204	NM_152296.5(ATP1A3):c.875T>G (p.Leu292Arg)	ATP1A3 (L292R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99	GPathogenic
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 1039236	NM_152296.5(ATP1A3):c.2144T>C (p.Leu715Pro)	ATP1A3 (L715P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99 +1 more	GPathogenic/Likely pathogenic
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 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)	Dystonia 12 +4 more	GBenign/Likely benign
Select item 698338	NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign
Select item 698029	NM_152296.5(ATP1A3):c.1134C>T (p.Val378=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +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)	not provided +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)	Dystonia 12 +5 more	GBenign/Likely benign
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)	Developmental and epileptic encephalopathy 99 +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)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign/Likely benign
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 468603	NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +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)	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)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 468593	NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +4 more	GBenign/Likely benign
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)	Developmental and epileptic encephalopathy 99 +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	GPathogenic/Likely pathogenic
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)	Dystonia 12 +7 more	GBenign/Likely benign
Select item 329432	NM_152296.5(ATP1A3):c.147T>C (p.Cys49=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +5 more	GBenign
Select item 329430	NM_152296.5(ATP1A3):c.207A>T (p.Ala69=)	ATP1A3	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 99 +4 more	GBenign/Likely benign
Select item 329428	NM_152296.5(ATP1A3):c.288C>T (p.Ile96=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +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)	Alternating hemiplegia of childhood 2 +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)	Alternating hemiplegia of childhood 2 +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)	Developmental and epileptic encephalopathy 99 +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)	Developmental and epileptic encephalopathy 99 +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)	not provided +5 more	GBenign
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 329404	NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +6 more	GBenign
Select item 329403	NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +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 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)	Developmental and epileptic encephalopathy 99 +4 more	GBenign/Likely benign
Select item 281502	NM_152296.5(ATP1A3):c.154-5C>G	ATP1A3	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 2 +5 more	GBenign
Select item 280121	NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)	ATP1A3 (P775L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 161147	NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del)	ATP1A3 (V919del +2 more)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy 99 +1 more	GPathogenic/Likely pathogenic
Select item 157925	NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=)	ATP1A3	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 99 +6 more	GBenign
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)	not provided +5 more	GPathogenic

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Items: 81