369[HGNC] - 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 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 2275516	NM_016248.4(AKAP11):c.13A>G (p.Arg5Gly)	AKAP11 (R5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104591	NM_016248.4(AKAP11):c.116G>T (p.Ser39Ile)	AKAP11 (S39I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709272	NM_016248.4(AKAP11):c.314A>G (p.Asn105Ser)	AKAP11 (N105S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3104750	NM_016248.4(AKAP11):c.331A>G (p.Ser111Gly)	AKAP11 (S111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606217	NM_016248.4(AKAP11):c.406C>G (p.Leu136Val)	AKAP11, LOC126861749 (L136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556671	NM_016248.4(AKAP11):c.497T>C (p.Leu166Pro)	AKAP11, LOC126861749 (L166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104873	NM_016248.4(AKAP11):c.581T>C (p.Leu194Ser)	AKAP11, LOC126861749 (L194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104878	NM_016248.4(AKAP11):c.589G>C (p.Glu197Gln)	AKAP11, LOC126861749 (E197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104880	NM_016248.4(AKAP11):c.611A>T (p.Asn204Ile)	AKAP11, LOC126861749 (N204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364323	NM_016248.4(AKAP11):c.667G>T (p.Val223Phe)	AKAP11, LOC126861749 (V223F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614902	NM_016248.4(AKAP11):c.773A>G (p.His258Arg)	AKAP11, LOC126861749 (H258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406096	NM_016248.4(AKAP11):c.826T>C (p.Trp276Arg)	AKAP11, LOC126861749 (W276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104889	NM_016248.4(AKAP11):c.836G>T (p.Arg279Met)	AKAP11, LOC126861749 (R279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104894	NM_016248.4(AKAP11):c.938G>A (p.Ser313Asn)	AKAP11 (S313N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495563	NM_016248.4(AKAP11):c.1106T>C (p.Leu369Ser)	AKAP11 (L369S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104587	NM_016248.4(AKAP11):c.1115G>T (p.Cys372Phe)	AKAP11 (C372F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244507	NM_016248.4(AKAP11):c.1186A>G (p.Met396Val)	AKAP11 (M396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552331	NM_016248.4(AKAP11):c.1193C>T (p.Pro398Leu)	AKAP11 (P398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104597	NM_016248.4(AKAP11):c.1213C>T (p.Arg405Cys)	AKAP11 (R405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206636	NM_016248.4(AKAP11):c.1219G>T (p.Ala407Ser)	AKAP11 (A407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104605	NM_016248.4(AKAP11):c.1267C>G (p.Pro423Ala)	AKAP11 (P423A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610182	NM_016248.4(AKAP11):c.1274G>T (p.Gly425Val)	AKAP11 (G425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540880	NM_016248.4(AKAP11):c.1300C>T (p.Pro434Ser)	AKAP11 (P434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257985	NM_016248.4(AKAP11):c.1403G>A (p.Cys468Tyr)	AKAP11 (C468Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258890	NM_016248.4(AKAP11):c.1446T>G (p.Asp482Glu)	AKAP11 (D482E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104626	NM_016248.4(AKAP11):c.1481G>A (p.Ser494Asn)	AKAP11 (S494N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104633	NM_016248.4(AKAP11):c.1490G>A (p.Cys497Tyr)	AKAP11 (C497Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286964	NM_016248.4(AKAP11):c.1529A>G (p.Asn510Ser)	AKAP11 (N510S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484548	NM_016248.4(AKAP11):c.1585A>C (p.Lys529Gln)	AKAP11 (K529Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313633	NM_016248.4(AKAP11):c.1624A>G (p.Lys542Glu)	AKAP11 (K542E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489774	NM_016248.4(AKAP11):c.1727G>A (p.Cys576Tyr)	AKAP11 (C576Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594904	NM_016248.4(AKAP11):c.1733A>G (p.Asn578Ser)	AKAP11 (N578S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280355	NM_016248.4(AKAP11):c.1803G>T (p.Arg601Ser)	AKAP11 (R601S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305877	NM_016248.4(AKAP11):c.1807C>T (p.Arg603Cys)	AKAP11 (R603C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 709273	NM_016248.4(AKAP11):c.1808G>A (p.Arg603His)	AKAP11 (R603H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768613	NM_016248.4(AKAP11):c.1828C>T (p.Arg610Cys)	AKAP11 (R610C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2548957	NM_016248.4(AKAP11):c.1921A>C (p.Asn641His)	AKAP11 (N641H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234981	NM_016248.4(AKAP11):c.1999T>C (p.Tyr667His)	AKAP11 (Y667H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396183	NM_016248.4(AKAP11):c.2002C>T (p.Pro668Ser)	AKAP11 (P668S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280344	NM_016248.4(AKAP11):c.2025G>T (p.Gln675His)	AKAP11 (Q675H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341991	NM_016248.4(AKAP11):c.2156G>A (p.Ser719Asn)	AKAP11 (S719N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410809	NM_016248.4(AKAP11):c.2165C>T (p.Thr722Met)	AKAP11 (T722M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280404	NM_016248.4(AKAP11):c.2182G>A (p.Val728Met)	AKAP11 (V728M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293848	NM_016248.4(AKAP11):c.2186G>A (p.Ser729Asn)	AKAP11 (S729N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104673	NM_016248.4(AKAP11):c.2221A>G (p.Thr741Ala)	AKAP11 (T741A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203876	NM_016248.4(AKAP11):c.2288A>G (p.Glu763Gly)	AKAP11 (E763G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258267	NM_016248.4(AKAP11):c.2332A>G (p.Thr778Ala)	AKAP11 (T778A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244508	NM_016248.4(AKAP11):c.2360G>T (p.Ser787Ile)	AKAP11 (S787I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537691	NM_016248.4(AKAP11):c.2389A>G (p.Thr797Ala)	AKAP11 (T797A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289733	NM_016248.4(AKAP11):c.2477G>C (p.Arg826Thr)	AKAP11 (R826T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263419	NM_016248.4(AKAP11):c.2486A>C (p.Lys829Thr)	AKAP11 (K829T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254121	NM_016248.4(AKAP11):c.2494T>A (p.Cys832Ser)	AKAP11 (C832S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321055	NM_016248.4(AKAP11):c.2574A>C (p.Glu858Asp)	AKAP11 (E858D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487854	NM_016248.4(AKAP11):c.2648T>A (p.Ile883Lys)	AKAP11 (I883K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386495	NM_016248.4(AKAP11):c.2663T>C (p.Leu888Ser)	AKAP11 (L888S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779443	NM_016248.4(AKAP11):c.2705A>G (p.Glu902Gly)	AKAP11 (E902G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2385408	NM_016248.4(AKAP11):c.2707C>T (p.Arg903Cys)	AKAP11 (R903C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045876	NM_016248.4(AKAP11):c.2708G>A (p.Arg903His)	AKAP11 (R903H)	Single nucleotide variant (missense variant)	AKAP11-related disorder	GLikely benign
Select item 2623958	NM_016248.4(AKAP11):c.2788G>A (p.Glu930Lys)	AKAP11 (E930K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454230	NM_016248.4(AKAP11):c.2821C>T (p.Arg941Trp)	AKAP11 (R941W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601090	NM_016248.4(AKAP11):c.2836A>G (p.Ile946Val)	AKAP11 (I946V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307841	NM_016248.4(AKAP11):c.2852T>C (p.Ile951Thr)	AKAP11 (I951T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495342	NM_016248.4(AKAP11):c.2894C>T (p.Ala965Val)	AKAP11 (A965V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104747	NM_016248.4(AKAP11):c.2920T>G (p.Ser974Ala)	AKAP11 (S974A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775343	NM_016248.4(AKAP11):c.3209A>G (p.His1070Arg)	AKAP11 (H1070R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782879	NM_016248.4(AKAP11):c.3221C>T (p.Ser1074Phe)	AKAP11 (S1074F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2411700	NM_016248.4(AKAP11):c.3307T>A (p.Ser1103Thr)	AKAP11 (S1103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456336	NM_016248.4(AKAP11):c.3323C>T (p.Pro1108Leu)	AKAP11 (P1108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104757	NM_016248.4(AKAP11):c.3442A>G (p.Ser1148Gly)	AKAP11 (S1148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246706	NM_016248.4(AKAP11):c.3494A>G (p.Lys1165Arg)	AKAP11 (K1165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554279	NM_016248.4(AKAP11):c.3499A>T (p.Met1167Leu)	AKAP11 (M1167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358539	NM_016248.4(AKAP11):c.3525G>C (p.Glu1175Asp)	AKAP11 (E1175D)	Single nucleotide variant (missense variant)	AKAP11-related disorder	GUncertain significance
Select item 2370246	NM_016248.4(AKAP11):c.3582G>T (p.Lys1194Asn)	AKAP11 (K1194N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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