ATP12A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 58235	GRCh38/hg38 13q12.12-12.13(chr13:24363400-24904246)x3	ATP12A, CENPJ +16 more	Copy number gain	See cases	GUncertain significance
Select item 58236	GRCh38/hg38 13q12.12-12.13(chr13:24635449-25592788)x3	AMER2, ATP12A +32 more	Copy number gain	See cases	GUncertain significance
Select item 1049724	NM_001676.7(ATP12A):c.9+1G>A	ATP12A, LOC130009399	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3131357	NM_001676.7(ATP12A):c.92A>G (p.Tyr31Cys)	ATP12A (Y31C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131347	NM_001676.7(ATP12A):c.181C>T (p.Leu61Phe)	ATP12A (L61F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131350	NM_001676.7(ATP12A):c.229G>T (p.Gly77Cys)	ATP12A (G77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213010	NM_001676.7(ATP12A):c.239G>A (p.Ser80Asn)	ATP12A (S80N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268287	NM_001676.7(ATP12A):c.302C>T (p.Thr101Met)	ATP12A (T101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643693	NM_001676.7(ATP12A):c.432C>T (p.Asn144=)	ATP12A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2404306	NM_001676.7(ATP12A):c.613A>G (p.Ile205Val)	ATP12A (I205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227537	NM_001676.7(ATP12A):c.613A>T (p.Ile205Phe)	ATP12A (I205F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612781	NM_001676.7(ATP12A):c.621G>C (p.Glu207Asp)	ATP12A (E207D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131354	NM_001676.7(ATP12A):c.665C>A (p.Ser222Tyr)	ATP12A (S222Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532043	NM_001676.7(ATP12A):c.683T>C (p.Val228Ala)	ATP12A (V228A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527072	NM_001676.7(ATP12A):c.733G>A (p.Glu245Lys)	ATP12A (E245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407801	NM_001676.7(ATP12A):c.788C>T (p.Thr263Met)	ATP12A (T263M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 784480	NM_001676.7(ATP12A):c.800-19G>A	ATP12A	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GBenign
Select item 2537693	NM_001676.7(ATP12A):c.829G>A (p.Gly277Ser)	ATP12A (G277S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359118	NM_001676.7(ATP12A):c.834C>G (p.Asp278Glu)	ATP12A (D278E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131355	NM_001676.7(ATP12A):c.836G>A (p.Arg279His)	ATP12A (R279H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327853	NM_001676.7(ATP12A):c.860C>T (p.Ser287Leu)	ATP12A (S293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495928	NM_001676.7(ATP12A):c.874G>A (p.Val292Ile)	ATP12A (V292I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288904	NM_001676.7(ATP12A):c.883G>A (p.Glu295Lys)	ATP12A (E295K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286358	NM_001676.7(ATP12A):c.949A>G (p.Ile317Val)	ATP12A (I317V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327887	NM_001676.7(ATP12A):c.973G>A (p.Ala325Thr)	ATP12A (A325T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491782	NM_001676.7(ATP12A):c.1100C>T (p.Ala367Val)	ATP12A (A373V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259863	NM_001676.7(ATP12A):c.1147G>A (p.Gly383Ser)	ATP12A (G383S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508688	NM_001676.7(ATP12A):c.1187T>C (p.Leu396Pro)	ATP12A (L396P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131343	NM_001676.7(ATP12A):c.1203G>A (p.Met401Ile)	ATP12A (M407I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131345	NM_001676.7(ATP12A):c.1300G>T (p.Ala434Ser)	ATP12A (A434S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530034	NM_001676.7(ATP12A):c.1393G>C (p.Asp465His)	ATP12A, LOC126861708 (D465H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455530	NM_001676.7(ATP12A):c.1513C>T (p.Leu505Phe)	ATP12A (L511F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300223	NM_001676.7(ATP12A):c.1514T>C (p.Leu505Pro)	ATP12A (L511P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259173	NM_001676.7(ATP12A):c.1598G>A (p.Cys533Tyr)	ATP12A (C533Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327861	NM_001676.7(ATP12A):c.1684G>A (p.Gly562Arg)	ATP12A (G568R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468436	NM_001676.7(ATP12A):c.1693G>A (p.Glu565Lys)	ATP12A (E565K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271636	NM_001676.7(ATP12A):c.1696C>T (p.Arg566Cys)	ATP12A (R566C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258029	NM_001676.7(ATP12A):c.1700T>G (p.Val567Gly)	ATP12A (V567G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131346	NM_001676.7(ATP12A):c.1735G>A (p.Glu579Lys)	ATP12A (E579K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294844	NM_001676.7(ATP12A):c.1767C>A (p.Asp589Glu)	ATP12A (D595E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327839	NM_001676.7(ATP12A):c.1781C>T (p.Pro594Leu)	ATP12A (P594L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496069	NM_001676.7(ATP12A):c.1832G>A (p.Arg611Gln)	ATP12A (R617Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327866	NM_001676.7(ATP12A):c.1840G>A (p.Val614Met)	ATP12A (V620M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256692	NM_001676.7(ATP12A):c.1849G>A (p.Ala617Thr)	ATP12A (A617T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327876	NM_001676.7(ATP12A):c.1859A>G (p.Lys620Arg)	ATP12A (K626R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364833	NM_001676.7(ATP12A):c.1897G>A (p.Gly633Ser)	ATP12A (G639S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131348	NM_001676.7(ATP12A):c.1898G>C (p.Gly633Ala)	ATP12A (G639A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511121	NM_001676.7(ATP12A):c.1987C>T (p.Leu663Phe)	ATP12A (L669F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131349	NM_001676.7(ATP12A):c.2019G>A (p.Arg673=)	ATP12A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3327898	NM_001676.7(ATP12A):c.2026A>G (p.Lys676Glu)	ATP12A (K676E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257640	NM_001676.7(ATP12A):c.2119C>T (p.Arg707Trp)	ATP12A (R707W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554863	NM_001676.7(ATP12A):c.2120G>A (p.Arg707Gln)	ATP12A (R713Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455933	NM_001676.7(ATP12A):c.2143A>G (p.Ile715Val)	ATP12A (I721V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323971	NM_001676.7(ATP12A):c.2171A>T (p.Asp724Val)	ATP12A (D724V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337282	NM_001676.7(ATP12A):c.2253A>G (p.Ile751Met)	ATP12A (I751M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472169	NM_001676.7(ATP12A):c.2284G>A (p.Asp762Asn)	ATP12A (D768N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533446	NM_001676.7(ATP12A):c.2320G>A (p.Val774Ile)	ATP12A (V780I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230656	NM_001676.7(ATP12A):c.2341C>T (p.Arg781Cys)	ATP12A (R787C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293330	NM_001676.7(ATP12A):c.2624T>C (p.Met875Thr)	ATP12A (M881T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456876	NM_001676.7(ATP12A):c.2659G>C (p.Val887Leu)	ATP12A (V887L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389424	NM_001676.7(ATP12A):c.2659G>A (p.Val887Ile)	ATP12A (V887I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596207	NM_001676.7(ATP12A):c.2687G>A (p.Arg896His)	ATP12A (R902H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771897	NM_001676.7(ATP12A):c.2754G>A (p.Gly918=)	ATP12A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2330820	NM_001676.7(ATP12A):c.2773C>A (p.Gln925Lys)	ATP12A, LOC126861709 (Q925K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327857	NM_001676.7(ATP12A):c.2803A>G (p.Thr935Ala)	ATP12A, LOC126861709 (T935A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328006	NM_001676.7(ATP12A):c.2804C>T (p.Thr935Met)	ATP12A, LOC126861709 (T935M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327845	NM_001676.7(ATP12A):c.2852T>A (p.Ile951Asn)	ATP12A, LOC126861709 (I957N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131351	NM_001676.7(ATP12A):c.2942G>A (p.Gly981Asp)	ATP12A, LOC126861709 (G987D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131352	NM_001676.7(ATP12A):c.2954C>T (p.Ser985Phe)	ATP12A, LOC126861709 (S985F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612408	NM_001676.7(ATP12A):c.3000G>A (p.Arg1000=)	ATP12A, LOC126861709	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3131353	NM_001676.7(ATP12A):c.3001G>T (p.Ala1001Ser)	ATP12A (A1007S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621161	NM_001676.7(ATP12A):c.3031G>A (p.Ala1011Thr)	ATP12A (A1011T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327834	NM_001676.7(ATP12A):c.3046G>A (p.Val1016Met)	ATP12A (V1022M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 2426474	NC_000013.10:g.(?_24293859)_(26594123_?)del	AMER2, ATP12A +12 more	Deletion	not provided	GPathogenic
Select item 1807582	GRCh37/hg19 13q12.12(chr13:24885345-25432676)x3	ATP12A, C1QTNF9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527757	GRCh37/hg19 13q12.12-12.13(chr13:25020122-25810823)	AMER2, ATP12A +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341219	GRCh37/hg19 13q12.12-12.13(chr13:23315046-25573967)x3	ATP12A, C1QTNF9 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic

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