ClinVar for Gene (Select 490) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 (3 prime UTR 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
Select item 2095912	NM_001366521.1(ATP2B1):c.3453G>C (p.Arg1151Ser)	ATP2B1 (R1000S +10 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1957331	NM_001366521.1(ATP2B1):c.1361A>G (p.Asn454Ser)	ATP2B1 (N454S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946554	NM_001366521.1(ATP2B1):c.226G>A (p.Ala76Thr)	ATP2B1 (A76T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1878884	NM_001366521.1(ATP2B1):c.2749T>C (p.Tyr917His)	ATP2B1 (Y730H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810713	NM_001366521.1(ATP2B1):c.2641C>A (p.Pro881Thr)	ATP2B1 (P815T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804327	NM_001366521.1(ATP2B1):c.132T>G (p.Asp44Glu)	ATP2B1 (D44E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801725	NM_001366521.1(ATP2B1):c.2359G>T (p.Asp787Tyr)	ATP2B1 (D600Y +7 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 1712324	NM_001366521.1(ATP2B1):c.2426A>G (p.Asp809Gly)	ATP2B1 (D622G +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 1710505	NM_001366521.1(ATP2B1):c.3632G>T (p.Ser1211Ile)	ATP2B1 (S1211I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 1706695	NM_001366521.1(ATP2B1):c.2230C>T (p.Arg744Ter)	ATP2B1 (R557* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1703507	NM_001366521.1(ATP2B1):c.2570A>G (p.Gln857Arg)	ATP2B1 (Q670R +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1697311	NM_001366521.1(ATP2B1):c.1235A>G (p.Tyr412Cys)	ATP2B1 (Y225C +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 1684514	NM_001366521.1(ATP2B1):c.1907_1908del (p.Val636fs)	ATP2B1 (V449fs +2 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder, autosomal dominant 66	GLikely pathogenic
Select item 1679167	NM_001366521.1(ATP2B1):c.1789C>T (p.Arg597Ter)	ATP2B1 (R410* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 1679166	NM_001366521.1(ATP2B1):c.458G>A (p.Trp153Ter)	ATP2B1 (W153* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1679165	NM_001366521.1(ATP2B1):c.2632C>T (p.Gln878Ter)	ATP2B1 (Q691* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 1679164	NM_001366521.1(ATP2B1):c.2972G>A (p.Arg991Gln)	ATP2B1 (R804Q +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1679163	NM_001366521.1(ATP2B1):c.2470G>A (p.Glu824Lys)	ATP2B1 (E637K +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1679162	NM_001366521.1(ATP2B1):c.2365C>T (p.Arg789Cys)	ATP2B1 (R602C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1679161	NM_001366521.1(ATP2B1):c.1274C>A (p.Thr425Lys)	ATP2B1 (T238K +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1679160	NM_001366521.1(ATP2B1):c.791C>T (p.Thr264Ile)	ATP2B1 (T198I +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1679159	NM_001366521.1(ATP2B1):c.716A>G (p.Asp239Gly)	ATP2B1 (D173G +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1334403	NM_001366521.1(ATP2B1):c.2938G>T (p.Val980Leu)	ATP2B1 (V793L +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +4 more	GLikely pathogenic
Select item 1334402	NM_001366521.1(ATP2B1):c.3060+2T>G	ATP2B1	Single nucleotide variant (splice donor variant)	Neurodevelopmental delay +4 more	GLikely pathogenic
Select item 982810	NM_001366521.1(ATP2B1):c.1376A>G (p.His459Arg)	ATP2B1 (H272R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 833258	NC_000012.12:g.(?_88516334)_(89591295_?)del	ATP2B1, DUSP6 +4 more	Deletion	not provided	GPathogenic
Select item 784251	NM_001366521.1(ATP2B1):c.3420G>T (p.Ser1140=)	ATP2B1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 773679	NM_001366521.1(ATP2B1):c.2052T>C (p.Asp684=)	ATP2B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770776	NM_001366521.1(ATP2B1):c.2547T>C (p.Tyr849=)	ATP2B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768569	NM_001366521.1(ATP2B1):c.975C>A (p.Ala325=)	ATP2B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 760163	NM_001366521.1(ATP2B1):c.828A>G (p.Thr276=)	ATP2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 666459	GRCh37/hg19 12q21.32-21.33(chr12:87296336-90301051)x1	ATP2B1, C12orf29 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 563983	GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1	CCER1, ATP2B1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 99