ClinVar for MedGen (Select 766702) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234044	NM_152296.5(ATP1A3):c.650G>A (p.Arg217His)	ATP1A3 (R217H +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GUncertain significance
Select item 3067986	NM_152296.5(ATP1A3):c.2071A>C (p.Ile691Leu)	ATP1A3 (I691L +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GUncertain significance
Select item 3065070	NM_152296.5(ATP1A3):c.2926A>G (p.Ser976Gly)	ATP1A3 (S976G +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GUncertain significance
Select item 3065003	NM_152296.5(ATP1A3):c.29C>T (p.Ser10Leu)	ATP1A3 (S10L +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GUncertain significance
Select item 2672228	NM_152296.5(ATP1A3):c.1111C>G (p.Leu371Val)	ATP1A3 (L371V +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +1 more	GUncertain significance
Select item 2499589	NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)	ATP1A3 (T360R +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2 +1 more	GPathogenic/Likely pathogenic
Select item 1803036	NM_152296.5(ATP1A3):c.2528C>A (p.Ala843Asp)	ATP1A3 (A843D +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GLikely pathogenic
Select item 1705555	NM_152296.5(ATP1A3):c.2266C>A (p.Arg756Ser)	ATP1A3 (R756S +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GLikely pathogenic
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 1435191	NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr)	ATP1A3 (A636T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1307922	NM_152296.5(ATP1A3):c.776G>A (p.Arg259His)	ATP1A3 (R259H +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2 +1 more	GUncertain significance
Select item 1264343	NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr)	ATP1A3 (I363T +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GPathogenic
Select item 1251996	NM_152296.5(ATP1A3):c.2407G>A (p.Gly803Ser)	ATP1A3 (G803S +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GPathogenic
Select item 1251987	NM_152296.5(ATP1A3):c.1165G>A (p.Glu389Lys)	ATP1A3 (E389K +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	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 1029189	NM_152296.5(ATP1A3):c.2759A>G (p.Gln920Arg)	ATP1A3 (Q933R +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GLikely pathogenic
Select item 981160	NM_152296.5(ATP1A3):c.1090T>C (p.Cys364Arg)	ATP1A3 (C364R +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GLikely pathogenic
Select item 929469	NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met)	ATP1A3 (I318M +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +1 more	GPathogenic
Select item 916241	NM_152296.5(ATP1A3):c.1756C>T (p.Arg586Trp)	ATP1A3 (R597W +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2 +1 more	GConflicting classifications of pathogenicity
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 894476	NM_152296.5(ATP1A3):c.2819+3G>A	ATP1A3	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 2 +1 more	GUncertain significance
Select item 894122	NM_152296.5(ATP1A3):c.2009A>G (p.Glu670Gly)	ATP1A3 (E681G +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +1 more	GUncertain significance
Select item 894121	NM_152296.5(ATP1A3):c.2136C>T (p.Ser712=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +1 more	GUncertain significance
Select item 894088	NM_152296.5(ATP1A3):c.3013+12C>T	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12 +1 more	GConflicting classifications of pathogenicity
Select item 894087	NM_152296.5(ATP1A3):c.*13C>A	ATP1A3	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 2 +1 more	GUncertain significance
Select item 893344	NM_152296.5(ATP1A3):c.725-6C>T	ATP1A3	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 2 +1 more	GUncertain significance
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 893235	NM_152296.5(ATP1A3):c.*99C>G	ATP1A3	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 2 +1 more	GUncertain significance
Select item 893234	NM_152296.5(ATP1A3):c.*206T>C	ATP1A3	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 2 +1 more	GUncertain significance
Select item 893126	NM_152296.5(ATP1A3):c.936C>A (p.Ile312=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +1 more	GConflicting classifications of pathogenicity
Select item 893095	NM_152296.5(ATP1A3):c.1806+12G>C	ATP1A3	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 2 +1 more	GUncertain significance
Select item 893054	NM_152296.5(ATP1A3):c.2418+9T>A	ATP1A3	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 2 +1 more	GConflicting classifications of pathogenicity
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 813816	NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)	ATP1A3 (D609Y +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GConflicting classifications of pathogenicity
Select item 813797	NM_152296.5(ATP1A3):c.991A>C (p.Thr331Pro)	ATP1A3 (T331P +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GLikely pathogenic
Select item 813746	NM_152296.5(ATP1A3):c.1801A>R (p.Ile601Xaa)	ATP1A3 (I612* +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GLikely pathogenic
Select item 813739	NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)	ATP1A3 (A813V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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)	Alternating hemiplegia of childhood 2 +4 more	GBenign
Select item 698029	NM_152296.5(ATP1A3):c.1134C>T (p.Val378=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +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 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 648593	NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys)	ATP1A3 (R30C +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2 +1 more	GConflicting classifications of pathogenicity
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 493263	NM_152296.5(ATP1A3):c.2439G>A (p.Ala813=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +2 more	GBenign/Likely benign
Select item 468607	NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +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 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 444473	NM_152296.5(ATP1A3):c.786C>T (p.Thr262=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +2 more	GBenign/Likely benign
Select item 434444	NM_152296.5(ATP1A3):c.1004C>A (p.Thr335Lys)	ATP1A3 (T335K +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	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)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +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 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 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 369662	NM_152296.5(ATP1A3):c.2512_2516delinsTC (p.Arg838_Leu839delinsSer)	ATP1A3	Indel (inframe_indel)	Alternating hemiplegia of childhood 2	GPathogenic
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 329433	NM_152296.5(ATP1A3):c.15A>G (p.Lys5=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +1 more	GConflicting classifications of pathogenicity
Select item 329432	NM_152296.5(ATP1A3):c.147T>C (p.Cys49=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +5 more	GBenign
Select item 329431	NM_152296.5(ATP1A3):c.153+7C>T	ATP1A3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 329430	NM_152296.5(ATP1A3):c.207A>T (p.Ala69=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign/Likely benign
Select item 329429	NM_152296.5(ATP1A3):c.270C>T (p.Phe90=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12 +1 more	GConflicting classifications of pathogenicity
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 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)	not provided +5 more	GBenign/Likely benign
Select item 329425	NM_152296.5(ATP1A3):c.607-7C>A	ATP1A3	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 2 +1 more	GConflicting classifications of pathogenicity
Select item 329424	NM_152296.5(ATP1A3):c.607-3C>T	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12 +1 more	GUncertain significance
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)	Dystonia 12 +5 more	GConflicting classifications of pathogenicity
Select item 329421	NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +1 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 329418	NM_152296.5(ATP1A3):c.1303-15C>A	ATP1A3	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 2 +1 more	GConflicting classifications of pathogenicity
Select item 329417	NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=)	ATP1A3	Single nucleotide variant (synonymous variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +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)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome +4 more	GBenign/Likely benign
Select item 329414	NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp)	ATP1A3 (N572D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign

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