ATP2C2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	LINC02176, LOC101928392 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 150582	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1	ADAD2, ATP2C2 +55 more	Copy number loss	See cases	GUncertain significance
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, KCNG4 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 147259	GRCh38/hg38 16q23.3-24.1(chr16:84063406-84404889)x3	ADAD2, ATP2C2 +20 more	Copy number gain	See cases	GBenign
Select item 2558426	NM_014861.4(ATP2C2):c.8A>G (p.Glu3Gly)	ATP2C2 (E3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481365	NM_014861.4(ATP2C2):c.41G>A (p.Gly14Asp)	ATP2C2 (G14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131619	NM_014861.4(ATP2C2):c.55G>A (p.Gly19Ser)	ATP2C2 (G19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047719	NM_014861.4(ATP2C2):c.65A>G (p.Tyr22Cys)	ATP2C2 (Y22C)	Single nucleotide variant (missense variant)	ATP2C2-related disorder	GLikely benign
Select item 2385306	NM_014861.4(ATP2C2):c.95C>G (p.Ala32Gly)	ATP2C2 (A32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044808	NM_014861.4(ATP2C2):c.154C>T (p.Leu52=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related disorder	GLikely benign
Select item 2555804	NM_014861.4(ATP2C2):c.170C>T (p.Ala57Val)	ATP2C2 (A57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790327	NM_014861.4(ATP2C2):c.171G>C (p.Ala57=)	ATP2C2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2048303	NM_014861.4(ATP2C2):c.236A>T (p.Glu79Val)	ATP2C2 (E79V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3053590	NM_014861.4(ATP2C2):c.270C>G (p.Gly90=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related disorder	GLikely benign
Select item 3057295	NM_014861.4(ATP2C2):c.297C>T (p.Ser99=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related disorder	GLikely benign
Select item 2386944	NM_014861.4(ATP2C2):c.298G>A (p.Glu100Lys)	ATP2C2 (E100K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 547871	NM_014861.4(ATP2C2):c.304G>A (p.Val102Met)	ATP2C2 (V102M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 738488	NM_014861.4(ATP2C2):c.328-5T>G	ATP2C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2646918	NM_014861.4(ATP2C2):c.378C>A (p.Val126=)	ATP2C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 779452	NM_014861.4(ATP2C2):c.412G>A (p.Ala138Thr)	ATP2C2 (A138T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2405353	NM_014861.4(ATP2C2):c.440T>C (p.Val147Ala)	ATP2C2 (V147A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529727	NM_014861.4(ATP2C2):c.448A>T (p.Ile150Phe)	ATP2C2 (I150F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052394	NM_014861.4(ATP2C2):c.450C>G (p.Ile150Met)	ATP2C2 (I150M +1 more)	Single nucleotide variant (missense variant)	ATP2C2-related disorder	GBenign
Select item 764990	NM_014861.4(ATP2C2):c.450C>T (p.Ile150=)	ATP2C2 (S20F)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3131616	NM_014861.4(ATP2C2):c.483G>C (p.Glu161Asp)	ATP2C2 (E161D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131617	NM_014861.4(ATP2C2):c.503C>T (p.Pro168Leu)	ATP2C2 (P168L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622708	NM_014861.4(ATP2C2):c.524A>G (p.Glu175Gly)	ATP2C2 (E175G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131618	NM_014861.4(ATP2C2):c.535C>G (p.Gln179Glu)	ATP2C2 (Q28E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516092	NM_014861.4(ATP2C2):c.551G>A (p.Arg184Gln)	ATP2C2 (R184Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2723351	NM_014861.4(ATP2C2):c.573C>A (p.Val191=)	ATP2C2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2308255	NM_014861.4(ATP2C2):c.578C>A (p.Ser193Tyr)	ATP2C2 (S193Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059110	NM_014861.4(ATP2C2):c.588C>T (p.Ile196=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related disorder	GBenign
Select item 3131620	NM_014861.4(ATP2C2):c.601C>G (p.Pro201Ala)	ATP2C2 (P50A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472811	NM_014861.4(ATP2C2):c.614G>A (p.Arg205Gln)	ATP2C2 (R205Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374331	NM_014861.4(ATP2C2):c.661G>A (p.Gly221Arg)	ATP2C2 (G221R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050354	NM_014861.4(ATP2C2):c.669C>T (p.Ala223=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related disorder	GLikely benign
Select item 2231323	NM_014861.4(ATP2C2):c.673C>T (p.Pro225Ser)	ATP2C2 (P74S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549977	NM_014861.4(ATP2C2):c.714C>G (p.Asp238Glu)	ATP2C2 (D238E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542584	NM_014861.4(ATP2C2):c.754G>T (p.Val252Leu)	ATP2C2 (V252L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131621	NM_014861.4(ATP2C2):c.761A>G (p.Tyr254Cys)	ATP2C2 (Y103C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 786297	NM_014861.4(ATP2C2):c.767G>A (p.Arg256Lys)	ATP2C2 (R256K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2279864	NM_014861.4(ATP2C2):c.772C>G (p.Gln258Glu)	ATP2C2 (Q107E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240556	NM_014861.4(ATP2C2):c.796G>A (p.Glu266Lys)	ATP2C2 (E266K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232260	NM_014861.4(ATP2C2):c.834G>T (p.Gln278His)	ATP2C2 (Q127H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131622	NM_014861.4(ATP2C2):c.850A>G (p.Lys284Glu)	ATP2C2 (K284E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131623	NM_014861.4(ATP2C2):c.888G>C (p.Lys296Asn)	ATP2C2 (K145N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474589	NM_014861.4(ATP2C2):c.904T>C (p.Ser302Pro)	ATP2C2 (S151P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331646	NM_014861.4(ATP2C2):c.905C>G (p.Ser302Cys)	ATP2C2 (S151C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719780	NM_014861.4(ATP2C2):c.919+9A>G	ATP2C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2303592	NM_014861.4(ATP2C2):c.925A>C (p.Ile309Leu)	ATP2C2 (I158L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309972	NM_014861.4(ATP2C2):c.928A>G (p.Met310Val)	ATP2C2 (M159V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603757	NM_014861.4(ATP2C2):c.935T>C (p.Ile312Thr)	ATP2C2 (I161T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 714851	NM_014861.4(ATP2C2):c.955C>G (p.Gln319Glu)	ATP2C2 (Q168E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2310017	NM_014861.4(ATP2C2):c.961C>A (p.Leu321Met)	ATP2C2 (L170M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363255	NM_014861.4(ATP2C2):c.979G>A (p.Gly327Arg)	ATP2C2 (G176R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037639	NM_014861.4(ATP2C2):c.987-8C>T	ATP2C2	Single nucleotide variant (intron variant)	ATP2C2-related disorder	GLikely benign
Select item 784695	NM_014861.4(ATP2C2):c.987-7G>A	ATP2C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712849	NM_014861.4(ATP2C2):c.990G>T (p.Leu330=)	ATP2C2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2261222	NM_014861.4(ATP2C2):c.991G>C (p.Ala331Pro)	ATP2C2 (A331P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274330	NM_014861.4(ATP2C2):c.1000G>A (p.Ala334Thr)	ATP2C2 (A334T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774508	NM_014861.4(ATP2C2):c.1002C>T (p.Ala334=)	ATP2C2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2232442	NM_014861.4(ATP2C2):c.1019C>T (p.Pro340Leu)	ATP2C2 (P189L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481681	NM_014861.4(ATP2C2):c.1027G>T (p.Val343Phe)	ATP2C2 (V192F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356791	NM_014861.4(ATP2C2):c.1027G>A (p.Val343Ile)	ATP2C2 (V192I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274331	NM_014861.4(ATP2C2):c.1051G>C (p.Val351Leu)	ATP2C2 (V351L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131587	NM_014861.4(ATP2C2):c.1057C>T (p.Arg353Trp)	ATP2C2 (R353W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131588	NM_014861.4(ATP2C2):c.1064C>T (p.Ala355Val)	ATP2C2 (A355V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131589	NM_014861.4(ATP2C2):c.1073G>A (p.Arg358Gln)	ATP2C2 (R207Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1013111	NM_014861.4(ATP2C2):c.1090T>C (p.Leu364=)	ATP2C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646919	NM_014861.4(ATP2C2):c.1123G>A (p.Val375Ile)	ATP2C2 (V224I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2377137	NM_014861.4(ATP2C2):c.1142C>T (p.Thr381Met)	ATP2C2 (T230M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040418	NM_014861.4(ATP2C2):c.1160A>G (p.Asn387Ser)	ATP2C2 (N236S +1 more)	Single nucleotide variant (missense variant)	ATP2C2-related disorder	GLikely benign
Select item 2544120	NM_014861.4(ATP2C2):c.1177C>G (p.Gln393Glu)	ATP2C2 (Q393E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265776	NM_014861.4(ATP2C2):c.1201C>T (p.Arg401Cys)	ATP2C2 (R250C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743368	NM_014861.4(ATP2C2):c.1202G>A (p.Arg401His)	ATP2C2 (R250H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2337482	NM_014861.4(ATP2C2):c.1205C>T (p.Ala402Val)	ATP2C2 (A251V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043440	NM_014861.4(ATP2C2):c.1210-10C>T	ATP2C2	Single nucleotide variant (intron variant)	ATP2C2-related disorder	GLikely benign

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