478[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 1064657	NC_000019.10:g.41952441_42266625del	ATP1A3, DEDD2 +42 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 329395	NM_152296.5(ATP1A3):c.*315G>A	ATP1A3	Single nucleotide variant (3 prime UTR variant)	Dystonia 12 +4 more	GBenign/Likely benign
Select item 1208418	NM_152296.5(ATP1A3):c.*299G>A	ATP1A3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 329396	NM_152296.5(ATP1A3):c.*298C>T	ATP1A3	Single nucleotide variant (3 prime UTR variant)	Alternating hemiplegia of childhood 2 +2 more	GUncertain significance
Select item 1183901	NM_152296.5(ATP1A3):c.*296C>T	ATP1A3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 329397	NM_152296.5(ATP1A3):c.*280T>A	ATP1A3	Single nucleotide variant (3 prime UTR variant)	Dystonia 12 +1 more	GUncertain significance
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 329398	NM_152296.5(ATP1A3):c.*236T>C	ATP1A3	Single nucleotide variant (3 prime UTR variant)	Dystonia 12 +1 more	GBenign
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 1263673	NM_152296.5(ATP1A3):c.*127A>C	ATP1A3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 329399	NM_152296.5(ATP1A3):c.*106T>C	ATP1A3	Single nucleotide variant (3 prime UTR variant)	Developmental and epileptic encephalopathy 99 +4 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 1190789	NM_152296.5(ATP1A3):c.*72A>G	ATP1A3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 329400	NM_152296.5(ATP1A3):c.*39C>G	ATP1A3	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign
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 2571045	NM_152296.5(ATP1A3):c.3042A>C (p.Ter1014Cys)	ATP1A3	Single nucleotide variant (stop lost)	not provided	GPathogenic
Select item 161154	NM_152296.5(ATP1A3):c.3035ACT[3] (p.Tyr1013dup)	ATP1A3	Microsatellite (inframe_insertion)	Dystonia 12	GPathogenic
Select item 2771815	NM_152296.5(ATP1A3):c.3027G>A (p.Lys1009=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12	GLikely benign
Select item 1969384	NM_152296.5(ATP1A3):c.3027G>T (p.Lys1009Asn)	ATP1A3 (K1009N +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 2198345	NM_152296.5(ATP1A3):c.3024G>A (p.Glu1008=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12	GLikely benign
Select item 2710815	NM_152296.5(ATP1A3):c.3022G>A (p.Glu1008Lys)	ATP1A3 (E1008K +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 2963582	NM_152296.5(ATP1A3):c.3019G>A (p.Val1007Met)	ATP1A3 (V1018M +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 643644	NM_152296.5(ATP1A3):c.3014G>A (p.Gly1005Asp)	ATP1A3 (G1005D +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +1 more	GUncertain significance
Select item 1125564	NM_152296.5(ATP1A3):c.3014-5T>C	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 1611277	NM_152296.5(ATP1A3):c.3014-11T>C	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 2726785	NM_152296.5(ATP1A3):c.3014-18C>T	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 1219026	NM_152296.5(ATP1A3):c.3013+134C>T	ATP1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881844	NM_152296.5(ATP1A3):c.3013+17A>G	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 1958928	NM_152296.5(ATP1A3):c.3013+13G>A	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 1918545	NM_152296.5(ATP1A3):c.3013+13G>C	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 894088	NM_152296.5(ATP1A3):c.3013+12C>T	ATP1A3	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 2 +1 more	GConflicting classifications of pathogenicity
Select item 1035054	NM_152296.5(ATP1A3):c.3013+10C>G	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GUncertain significance
Select item 1059801	NM_152296.5(ATP1A3):c.3013+1G>A	ATP1A3	Single nucleotide variant (splice donor variant)	Dystonia 12	GPathogenic
Select item 962662	NM_152296.5(ATP1A3):c.3011G>T (p.Gly1004Val)	ATP1A3 (G1004V +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 946145	NM_152296.5(ATP1A3):c.3011G>C (p.Gly1004Ala)	ATP1A3 (G1004A +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 851574	NM_152296.5(ATP1A3):c.3008C>T (p.Pro1003Leu)	ATP1A3 (P1014L +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 1663608	NM_152296.5(ATP1A3):c.3006C>T (p.Asn1002=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12	GLikely benign
Select item 951437	NM_152296.5(ATP1A3):c.2998C>T (p.Arg1000Cys)	ATP1A3 (R1000C +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 1096957	NM_152296.5(ATP1A3):c.2997G>T (p.Leu999=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12	GLikely benign
Select item 2111919	NM_152296.5(ATP1A3):c.2966_2996del (p.Phe989fs)	ATP1A3 (F1002fs +2 more)	Deletion (frameshift variant)	Dystonia 12	GPathogenic
Select item 1497613	NM_152296.5(ATP1A3):c.2996T>C (p.Leu999Pro)	ATP1A3 (L1010P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2011053	NM_152296.5(ATP1A3):c.2977_2994del (p.Glu993_Ile998del)	ATP1A3	Deletion (inframe_deletion)	Dystonia 12	GUncertain significance
Select item 1643042	NM_152296.5(ATP1A3):c.2994C>T (p.Ile998=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12	GLikely benign
Select item 2662554	NM_152296.5(ATP1A3):c.2989C>G (p.Leu997Val)	ATP1A3 (L1008V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574235	NM_152296.5(ATP1A3):c.2983C>T (p.Arg995Cys)	ATP1A3 (R1006C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2122184	NM_152296.5(ATP1A3):c.2977_2982dup (p.Ile994_Arg995insGluIle)	ATP1A3	Duplication (inframe_insertion)	Dystonia 12	GLikely pathogenic
Select item 2108236	NM_152296.5(ATP1A3):c.2980A>G (p.Ile994Val)	ATP1A3 (I1007V +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 1703427	NM_152296.5(ATP1A3):c.2977G>A (p.Glu993Lys)	ATP1A3 (E1004K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425013	NM_152296.5(ATP1A3):c.2971_2976del (p.Tyr991_Asp992del)	ATP1A3	Deletion (inframe_deletion)	Dystonia 12	GUncertain significance
Select item 468604	NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=)	ATP1A3	Single nucleotide variant (synonymous variant)	Alternating hemiplegia of childhood 2 +4 more	GBenign
Select item 1308114	NM_152296.5(ATP1A3):c.2975A>G (p.Asp992Gly)	ATP1A3 (D1003G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303306	NM_152296.5(ATP1A3):c.2974G>A (p.Asp992Asn)	ATP1A3 (D1003N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 574822	NM_152296.5(ATP1A3):c.2974G>C (p.Asp992His)	ATP1A3 (D992H +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 2839787	NM_152296.5(ATP1A3):c.2953_2973del (p.Ser985_Tyr991del)	ATP1A3	Deletion (inframe_deletion)	Dystonia 12	GUncertain significance
Select item 1078544	NM_152296.5(ATP1A3):c.2973C>T (p.Tyr991=)	ATP1A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2716035	NM_152296.5(ATP1A3):c.2972A>T (p.Tyr991Phe)	ATP1A3 (Y1002F +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 1378783	NM_152296.5(ATP1A3):c.2969T>C (p.Val990Ala)	ATP1A3 (V1003A +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
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 1933037	NM_152296.5(ATP1A3):c.2967C>T (p.Phe989=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12	GLikely benign
Select item 2991275	NM_152296.5(ATP1A3):c.2962A>G (p.Ile988Val)	ATP1A3 (I1001V +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 1676862	NM_152296.5(ATP1A3):c.2960T>C (p.Leu987Pro)	ATP1A3 (L1000P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686482	NM_152296.5(ATP1A3):c.2953A>G (p.Ser985Gly)	ATP1A3 (S985G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1100969	NM_152296.5(ATP1A3):c.2946C>T (p.Phe982=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12	GLikely benign
Select item 1094332	NM_152296.5(ATP1A3):c.2943C>T (p.Ala981=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12	GLikely benign
Select item 1709953	NM_152296.5(ATP1A3):c.2940T>A (p.Cys980Ter)	ATP1A3 (C980* +2 more)	Single nucleotide variant (nonsense)	Dystonia 12	GUncertain significance
Select item 2769658	NM_152296.5(ATP1A3):c.2939G>T (p.Cys980Phe)	ATP1A3 (C991F +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 762772	NM_152296.5(ATP1A3):c.2937C>T (p.Phe979=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12	GLikely benign
Select item 3253235	NM_152296.5(ATP1A3):c.2934G>A (p.Trp978Ter)	ATP1A3 (W978* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3256778	NM_152296.5(ATP1A3):c.2933G>A (p.Trp978Ter)	ATP1A3 (W978* +2 more)	Single nucleotide variant (nonsense)	Alternating hemiplegia of childhood 2	GLikely pathogenic
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 2430633	NM_152296.5(ATP1A3):c.2924C>T (p.Pro975Leu)	ATP1A3 (P975L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695846	NM_152296.5(ATP1A3):c.2923C>G (p.Pro975Ala)	ATP1A3 (P975A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758136	NM_152296.5(ATP1A3):c.2922-3C>G	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GUncertain significance
Select item 1532093	NM_152296.5(ATP1A3):c.2922-6C>G	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 1155920	NM_152296.5(ATP1A3):c.2922-6C>T	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 1578496	NM_152296.5(ATP1A3):c.2922-8C>A	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 1958685	NM_152296.5(ATP1A3):c.2922-17T>G	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 1222243	NM_152296.5(ATP1A3):c.2922-33C>T	ATP1A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204141	NM_152296.5(ATP1A3):c.2922-58G>A	ATP1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174224	NM_152296.5(ATP1A3):c.2921+18C>T	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 2904143	NM_152296.5(ATP1A3):c.2921+17C>G	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 2758614	NM_152296.5(ATP1A3):c.2921+13C>T	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 2138214	NM_152296.5(ATP1A3):c.2921+12G>A	ATP1A3	Single nucleotide variant (intron variant)	Dystonia 12	GLikely benign
Select item 1243469	NM_152296.5(ATP1A3):c.2921+11C>T	ATP1A3	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 99 +4 more	GBenign
Select item 2446553	NM_152296.5(ATP1A3):c.2921+4A>G	ATP1A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1004046	NM_152296.5(ATP1A3):c.2921+1G>C	ATP1A3	Single nucleotide variant (splice donor variant)	Dystonia 12	GLikely pathogenic
Select item 1994445	NM_152296.5(ATP1A3):c.2908A>C (p.Met970Leu)	ATP1A3 (M981L +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 1347387	NM_152296.5(ATP1A3):c.2907C>T (p.Arg969=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12	GUncertain significance
Select item 1400126	NM_152296.5(ATP1A3):c.2906G>A (p.Arg969His)	ATP1A3 (R969H +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 2829947	NM_152296.5(ATP1A3):c.2902del (p.Leu968fs)	ATP1A3 (L968fs +2 more)	Deletion (frameshift variant)	Dystonia 12	GPathogenic
Select item 1479871	NM_152296.5(ATP1A3):c.2898G>A (p.Val966=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12	GLikely benign
Select item 2764900	NM_152296.5(ATP1A3):c.2896G>T (p.Val966Leu)	ATP1A3 (V977L +2 more)	Single nucleotide variant (missense variant)	Dystonia 12	GUncertain significance
Select item 387427	NM_152296.5(ATP1A3):c.2896G>A (p.Val966Met)	ATP1A3 (V966M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 700045	NM_152296.5(ATP1A3):c.2895C>T (p.Asp965=)	ATP1A3	Single nucleotide variant (synonymous variant)	Dystonia 12	GLikely benign
Select item 1020197	NM_152296.5(ATP1A3):c.2887G>A (p.Gly963Ser)	ATP1A3 (G963S +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +1 more	GUncertain significance
Select item 468603	NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=)	ATP1A3	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 99 +5 more	GBenign/Likely benign

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