ClinVar for Gene (Select 490) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382605	NM_001366521.1(ATP2B1):c.3575G>T (p.Ser1192Ile)	ATP2B1 (S1005I +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 3381342	NM_001366521.1(ATP2B1):c.3538C>G (p.Pro1180Ala)	ATP2B1 (P1029A +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3377910	NM_001366521.1(ATP2B1):c.733G>C (p.Gly245Arg)	ATP2B1 (G160R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3377235	NM_001366521.1(ATP2B1):c.3215C>T (p.Ala1072Val)	ATP2B1 (A1006V +9 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GLikely pathogenic
Select item 3377230	NM_001366521.1(ATP2B1):c.2954del (p.Phe985fs)	ATP2B1 (F798fs +7 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GPathogenic
Select item 3376912	NM_001366521.1(ATP2B1):c.1130-2A>C	ATP2B1	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder, autosomal dominant 66	GLikely pathogenic
Select item 3376629	NM_001366521.1(ATP2B1):c.658del (p.Tyr220fs)	ATP2B1 (Y154fs +1 more)	Deletion (frameshift variant +2 more)	Neurodevelopmental disorder	GPathogenic
Select item 3376625	NM_001366521.1(ATP2B1):c.983G>A (p.Gly328Asp)	ATP2B1 (G141D +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 3373430	NM_001366521.1(ATP2B1):c.2992A>C (p.Asn998His)	ATP2B1 (N811H +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373030	NM_001366521.1(ATP2B1):c.2620G>A (p.Ala874Thr)	ATP2B1 (A687T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373009	NM_001366521.1(ATP2B1):c.1627A>G (p.Asn543Asp)	ATP2B1 (N356D +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372828	NM_001366521.1(ATP2B1):c.2285T>G (p.Leu762Arg)	ATP2B1 (L575R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372626	NM_001366521.1(ATP2B1):c.3351+435C>T	ATP2B1 (P1072L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372046	NM_001366521.1(ATP2B1):c.894A>C (p.Glu298Asp)	ATP2B1 (E147D +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3371691	NM_001366521.1(ATP2B1):c.1343A>C (p.Lys448Thr)	ATP2B1 (K261T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369657	NM_001366521.1(ATP2B1):c.733G>T (p.Gly245Cys)	ATP2B1 (G160C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3368133	NM_001366521.1(ATP2B1):c.967G>T (p.Ala323Ser)	ATP2B1 (A172S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3366135	NM_001366521.1(ATP2B1):c.2488C>T (p.Leu830Phe)	ATP2B1 (L643F +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365770	NM_001366521.1(ATP2B1):c.1238T>C (p.Ile413Thr)	ATP2B1 (I226T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364859	NM_001366521.1(ATP2B1):c.2338A>G (p.Ile780Val)	ATP2B1 (I593V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363581	NM_001366521.1(ATP2B1):c.1786T>C (p.Tyr596His)	ATP2B1 (Y409H +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362457	NM_001366521.1(ATP2B1):c.158A>G (p.Tyr53Cys)	ATP2B1 (Y53C)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 3362197	NM_001366521.1(ATP2B1):c.3578G>C (p.Gly1193Ala)	ATP2B1 (G1006A +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3361883	NM_001366521.1(ATP2B1):c.100C>G (p.Leu34Val)	ATP2B1 (L34V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360687	NM_001366521.1(ATP2B1):c.2995G>A (p.Val999Ile)	ATP2B1 (V812I +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359985	NM_001366521.1(ATP2B1):c.2444G>T (p.Gly815Val)	ATP2B1 (G628V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3348079	NM_001366521.1(ATP2B1):c.2290G>C (p.Val764Leu)	ATP2B1 (V577L +7 more)	Single nucleotide variant (missense variant +1 more)	ATP2B1-related disorder	GUncertain significance
Select item 3346536	NM_001366521.1(ATP2B1):c.2578C>T (p.Leu860Phe)	ATP2B1 (L673F +7 more)	Single nucleotide variant (missense variant +1 more)	ATP2B1-related disorder	GUncertain significance
Select item 3343695	NM_001366521.1(ATP2B1):c.767A>T (p.Lys256Met)	ATP2B1 (K105M +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3342278	NM_001366521.1(ATP2B1):c.2682G>A (p.Met894Ile)	ATP2B1 (M707I +7 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 3340971	NM_001366521.1(ATP2B1):c.2912A>G (p.His971Arg)	ATP2B1 (H784R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338182	NM_001366521.1(ATP2B1):c.2558C>G (p.Ser853Ter)	ATP2B1 (S666* +7 more)	Single nucleotide variant (nonsense +1 more)	Autism	GLikely pathogenic
Select item 3337832	NM_001366521.1(ATP2B1):c.1348A>G (p.Met450Val)	ATP2B1 (M263V +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3328737	NM_001366521.1(ATP2B1):c.3641A>G (p.His1214Arg)	ATP2B1 (H1148R +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3328727	NM_001366521.1(ATP2B1):c.3597A>C (p.Glu1199Asp)	ATP2B1 (E1114D +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3328718	NM_001366521.1(ATP2B1):c.3593T>C (p.Ile1198Thr)	ATP2B1 (I1198T +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3328708	NM_001366521.1(ATP2B1):c.140G>A (p.Arg47Gln)	ATP2B1 (R47Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3328699	NM_001366521.1(ATP2B1):c.3542C>A (p.Pro1181His)	ATP2B1 (P1030H +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3256693	NM_001366521.1(ATP2B1):c.1157T>C (p.Ile386Thr)	ATP2B1 (I199T +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 3251727	NM_001366521.1(ATP2B1):c.687A>G (p.Ile229Met)	ATP2B1 (I144M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3233557	NM_001366521.1(ATP2B1):c.3455T>C (p.Ile1152Thr)	ATP2B1 (I1001T +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3233326	NM_001366521.1(ATP2B1):c.1816A>G (p.Ile606Val)	ATP2B1 (I419V +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 3131536	NM_001366521.1(ATP2B1):c.950T>C (p.Ile317Thr)	ATP2B1 (I166T +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3131534	NM_001366521.1(ATP2B1):c.50C>A (p.Ser17Tyr)	ATP2B1 (S17Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3131532	NM_001366521.1(ATP2B1):c.2842T>A (p.Phe948Ile)	ATP2B1 (F761I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131531	NM_001366521.1(ATP2B1):c.2534G>A (p.Gly845Glu)	ATP2B1 (G760E +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3131530	NM_001366521.1(ATP2B1):c.1995T>G (p.Asp665Glu)	ATP2B1 (D514E +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3131529	NM_001366521.1(ATP2B1):c.1538A>G (p.Tyr513Cys)	ATP2B1 (Y362C +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3131528	NM_001366521.1(ATP2B1):c.1212G>C (p.Trp404Cys)	ATP2B1 (W217C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068969	NM_001366521.1(ATP2B1):c.2067+3G>A	ATP2B1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2688644	NM_001366521.1(ATP2B1):c.758C>G (p.Ser253Cys)	ATP2B1 (S102C +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 2684680	GRCh37/hg19 12q21.33(chr12:89330254-90734509)x3	ATP2B1, DUSP6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2683828	NM_001366521.1(ATP2B1):c.2509_2512del (p.Ser837fs)	ATP2B1 (S650fs +7 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GLikely pathogenic
Select item 2682537	NM_001366521.1(ATP2B1):c.90G>T (p.Thr30=)	ATP2B1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2672513	NM_001366521.1(ATP2B1):c.3635C>T (p.Pro1212Leu)	ATP2B1 (P1025L +10 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2631726	NM_001366521.1(ATP2B1):c.2482ATT[1] (p.Ile829del)	ATP2B1 (I642del +7 more)	Microsatellite (inframe_deletion +1 more)	ATP2B1-related disorder	GLikely pathogenic
Select item 2627882	NM_001366521.1(ATP2B1):c.2386G>A (p.Gly796Ser)	ATP2B1 (G609S +7 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2627861	NM_001366521.1(ATP2B1):c.2353G>A (p.Val785Ile)	ATP2B1 (V598I +7 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2627844	NM_001366521.1(ATP2B1):c.3110C>G (p.Ser1037Ter)	ATP2B1 (S1024* +7 more)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2626973	NM_001366521.1(ATP2B1):c.406+1G>A	ATP2B1	Single nucleotide variant (intron variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GLikely pathogenic
Select item 2615014	NM_001366521.1(ATP2B1):c.625G>C (p.Asp209His)	ATP2B1 (D209H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2601496	NM_001366521.1(ATP2B1):c.632C>T (p.Thr211Ile)	ATP2B1 (T211I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2601163	NM_001366521.1(ATP2B1):c.2331del (p.Gly779fs)	ATP2B1 (G628fs +7 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593337	NM_001366521.1(ATP2B1):c.2536C>T (p.Arg846Ter)	ATP2B1 (R780* +7 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2582467	NM_001366521.1(ATP2B1):c.1550G>C (p.Gly517Ala)	ATP2B1 (G330A +6 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 2581682	NM_001366521.1(ATP2B1):c.1237A>G (p.Ile413Val)	ATP2B1 (I226V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2581374	NM_001366521.1(ATP2B1):c.3055G>C (p.Val1019Leu)	ATP2B1 (V1006L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580931	NM_001366521.1(ATP2B1):c.2959G>T (p.Glu987Ter)	ATP2B1 (E800* +7 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 30	GLikely pathogenic
Select item 2577689	NM_001366521.1(ATP2B1):c.112A>G (p.Met38Val)	ATP2B1 (M38V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572324	NM_001366521.1(ATP2B1):c.1884C>T (p.Asp628=)	ATP2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2570843	NM_001366521.1(ATP2B1):c.2005G>A (p.Asp669Asn)	ATP2B1 (D482N +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2559878	NM_001366521.1(ATP2B1):c.2806G>A (p.Ala936Thr)	ATP2B1 (A749T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530336	NM_001366521.1(ATP2B1):c.3550A>G (p.Asn1184Asp)	ATP2B1 (N1101D +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2517118	NM_001366521.1(ATP2B1):c.103C>T (p.Arg35Trp)	ATP2B1 (R35W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506001	NM_001366521.1(ATP2B1):c.2308_2310del (p.Pro770del)	ATP2B1 (P583del +7 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2505715	NM_001366521.1(ATP2B1):c.2819T>G (p.Leu940Arg)	ATP2B1 (L753R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503359	NM_001366521.1(ATP2B1):c.3557A>G (p.Asn1186Ser)	ATP2B1 (N1035S +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2477625	NM_001366521.1(ATP2B1):c.422C>G (p.Ser141Cys)	ATP2B1 (S75C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2463165	NM_001366521.1(ATP2B1):c.1147A>G (p.Ile383Val)	ATP2B1 (I298V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2444387	NM_001366521.1(ATP2B1):c.3367G>T (p.Ala1123Ser)	ATP2B1 (A1038S +13 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 2404572	NM_001366521.1(ATP2B1):c.119T>C (p.Leu40Pro)	ATP2B1 (L40P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378385	NM_001366521.1(ATP2B1):c.3238G>A (p.Glu1080Lys)	ATP2B1 (E1067K +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378218	NM_001366521.1(ATP2B1):c.5G>A (p.Gly2Asp)	ATP2B1 (G2D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369762	NM_001366521.1(ATP2B1):c.3541C>A (p.Pro1181Thr)	ATP2B1 (P1098T +10 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339355	NM_001366521.1(ATP2B1):c.942T>A (p.Asp314Glu)	ATP2B1 (D163E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333279	NM_001366521.1(ATP2B1):c.3539C>A (p.Pro1180Gln)	ATP2B1 (P1029Q +10 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328352	NM_001366521.1(ATP2B1):c.2893C>G (p.His965Asp)	ATP2B1 (H880D +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323474	NM_001366521.1(ATP2B1):c.3035T>C (p.Ile1012Thr)	ATP2B1 (I825T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322125	NM_001366521.1(ATP2B1):c.149A>G (p.Gln50Arg)	ATP2B1 (Q50R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317380	NM_001366521.1(ATP2B1):c.2533G>T (p.Gly845Ter)	ATP2B1 (G760* +7 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2316410	NM_001366521.1(ATP2B1):c.65A>G (p.Asn22Ser)	ATP2B1 (N22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313871	NM_001366521.1(ATP2B1):c.397G>A (p.Asp133Asn)	ATP2B1 (D133N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309451	NM_001366521.1(ATP2B1):c.439G>C (p.Gly147Arg)	ATP2B1 (G147R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290690	NM_001366521.1(ATP2B1):c.424G>A (p.Val142Ile)	ATP2B1 (V142I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251863	NM_001366521.1(ATP2B1):c.343G>A (p.Glu115Lys)	ATP2B1 (E115K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245376	NM_001366521.1(ATP2B1):c.3000C>A (p.Phe1000Leu)	ATP2B1 (F1000L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238741	NM_001366521.1(ATP2B1):c.275C>T (p.Pro92Leu)	ATP2B1 (P92L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227344	NM_001366521.1(ATP2B1):c.2114G>A (p.Arg705Gln)	ATP2B1 (R518Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2112721	NM_001366521.1(ATP2B1):c.1370_1373del (p.Val457fs)	ATP2B1 (V270fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic

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