NAA16[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 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 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	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 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 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 154825	GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3	LOC130009641, LOC130009642 +141 more	Copy number gain	See cases	GUncertain significance
Select item 59890	GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3	AKAP11, CCDC122 +111 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 2309762	NM_024561.5(NAA16):c.109C>G (p.Leu37Val)	NAA16 (L37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298264	NM_024561.5(NAA16):c.141G>T (p.Glu47Asp)	NAA16 (E47D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298267	NM_024561.5(NAA16):c.151A>G (p.Met51Val)	NAA16 (M51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171338	NM_024561.5(NAA16):c.176T>C (p.Leu59Ser)	NAA16 (L59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298271	NM_024561.5(NAA16):c.181A>G (p.Lys61Glu)	NAA16 (K61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298265	NM_024561.5(NAA16):c.191A>C (p.Glu64Ala)	NAA16 (E64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397983	NM_024561.5(NAA16):c.204T>G (p.Phe68Leu)	NAA16 (F68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320262	NM_024561.5(NAA16):c.209G>A (p.Arg70His)	NAA16 (R70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477639	NM_024561.5(NAA16):c.271C>A (p.Arg91Ser)	NAA16 (R91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374088	NM_024561.5(NAA16):c.328G>A (p.Asp110Asn)	NAA16 (D110N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206066	NM_024561.5(NAA16):c.454A>G (p.Ile152Val)	NAA16 (I152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298259	NM_024561.5(NAA16):c.538G>T (p.Val180Phe)	NAA16 (V180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492857	NM_024561.5(NAA16):c.539T>C (p.Val180Ala)	NAA16 (V180A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171394	NM_024561.5(NAA16):c.619C>G (p.Gln207Glu)	NAA16 (Q207E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342252	NM_024561.5(NAA16):c.661T>C (p.Cys221Arg)	NAA16 (C221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522028	NM_024561.5(NAA16):c.700C>A (p.Leu234Met)	NAA16 (L234M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227118	NM_024561.5(NAA16):c.839A>G (p.Tyr280Cys)	NAA16 (Y280C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171407	NM_024561.5(NAA16):c.896C>G (p.Thr299Ser)	NAA16 (T299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171411	NM_024561.5(NAA16):c.932A>G (p.Asp311Gly)	NAA16 (D311G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171412	NM_024561.5(NAA16):c.946G>A (p.Val316Ile)	NAA16 (V316I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294734	NM_024561.5(NAA16):c.992C>G (p.Ser331Cys)	NAA16 (S331C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474161	NM_024561.5(NAA16):c.1021A>G (p.Ile341Val)	NAA16 (I341V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225947	NM_024561.5(NAA16):c.1082C>T (p.Pro361Leu)	NAA16 (P361L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171283	NM_024561.5(NAA16):c.1101G>T (p.Lys367Asn)	NAA16 (K367N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346798	NM_024561.5(NAA16):c.1141G>A (p.Ala381Thr)	NAA16 (A381T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393808	NM_024561.5(NAA16):c.1178C>G (p.Ala393Gly)	NAA16 (A393G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391499	NM_024561.5(NAA16):c.1196C>T (p.Ala399Val)	NAA16 (A399V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298260	NM_024561.5(NAA16):c.1253A>G (p.Tyr418Cys)	NAA16 (Y418C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171297	NM_024561.5(NAA16):c.1325G>A (p.Arg442Lys)	NAA16 (R442K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298263	NM_024561.5(NAA16):c.1361G>A (p.Arg454Gln)	NAA16 (R454Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298261	NM_024561.5(NAA16):c.1370T>C (p.Met457Thr)	NAA16 (M457T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558776	NM_024561.5(NAA16):c.1374A>G (p.Ile458Met)	NAA16 (I458M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519276	NM_024561.5(NAA16):c.1439A>G (p.Asn480Ser)	NAA16 (N480S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298270	NM_024561.5(NAA16):c.1471T>C (p.Cys491Arg)	NAA16 (C491R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171308	NM_024561.5(NAA16):c.1519A>C (p.Lys507Gln)	NAA16 (K507Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208142	NM_024561.5(NAA16):c.1580C>T (p.Thr527Ile)	NAA16 (T527I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318569	NM_024561.5(NAA16):c.1640T>C (p.Ile547Thr)	NAA16 (I547T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472138	NM_024561.5(NAA16):c.1652A>G (p.His551Arg)	NAA16 (H551R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264026	NM_024561.5(NAA16):c.1693T>C (p.Tyr565His)	NAA16 (Y565H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493941	NM_024561.5(NAA16):c.1724A>G (p.Asn575Ser)	NAA16 (N575S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171331	NM_024561.5(NAA16):c.1727A>G (p.Glu576Gly)	NAA16 (E576G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171336	NM_024561.5(NAA16):c.1746A>G (p.Ile582Met)	NAA16 (I582M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171343	NM_024561.5(NAA16):c.1791C>G (p.Ser597Arg)	NAA16 (S597R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398148	NM_024561.5(NAA16):c.1876A>G (p.Lys626Glu)	NAA16 (K626E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298266	NM_024561.5(NAA16):c.1925T>A (p.Leu642His)	NAA16 (L642H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298258	NM_024561.5(NAA16):c.1972G>A (p.Val658Ile)	NAA16 (V658I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400780	NM_024561.5(NAA16):c.2099C>G (p.Ala700Gly)	NAA16 (A700G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336490	NM_024561.5(NAA16):c.2165A>G (p.His722Arg)	NAA16 (H722R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171359	NM_024561.5(NAA16):c.2173C>T (p.Leu725Phe)	NAA16 (L725F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279313	NM_024561.5(NAA16):c.2174T>A (p.Leu725His)	NAA16 (L725H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557036	NM_024561.5(NAA16):c.2271C>G (p.Asn757Lys)	NAA16 (N757K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171368	NM_024561.5(NAA16):c.2300G>T (p.Gly767Val)	NAA16 (G767V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171373	NM_024561.5(NAA16):c.2347A>T (p.Ile783Phe)	NAA16 (I783F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383148	NM_024561.5(NAA16):c.2353A>G (p.Ile785Val)	NAA16 (I785V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171381	NM_024561.5(NAA16):c.2359A>G (p.Thr787Ala)	NAA16 (T787A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298269	NM_024561.5(NAA16):c.2375C>T (p.Thr792Ile)	NAA16 (T792I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298268	NM_024561.5(NAA16):c.2392G>A (p.Val798Ile)	NAA16 (V798I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 2424733	NC_000013.10:g.(?_41367363)_(43181054_?)dup	MTRF1, TNFSF11 +10 more	Duplication	not provided	GUncertain significance
Select item 1808218	GRCh37/hg19 13q14.11(chr13:41845719-42135959)x3	NAA16, RGCC	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 1527767	GRCh37/hg19 13q13.3-14.11(chr13:39428367-43608103)	AKAP11, COG6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic
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 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340864	GRCh37/hg19 13q14.11(chr13:41845718-42124117)x3	NAA16, RGCC	Copy number gain	not provided	GUncertain significance
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic

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