ClinVar for Gene (Select 11215) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3345994	NM_016248.4(AKAP11):c.3643G>C (p.Ala1215Pro)	AKAP11 (A1215P)	Single nucleotide variant (missense variant)	AKAP11-related disorder	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 3280398	NM_016248.4(AKAP11):c.5086G>C (p.Ala1696Pro)	AKAP11 (A1696P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280388	NM_016248.4(AKAP11):c.4242C>G (p.Asn1414Lys)	AKAP11 (N1414K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280377	NM_016248.4(AKAP11):c.5047A>G (p.Ser1683Gly)	AKAP11 (S1683G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280366	NM_016248.4(AKAP11):c.3925G>A (p.Val1309Ile)	AKAP11 (V1309I)	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 3280344	NM_016248.4(AKAP11):c.2025G>T (p.Gln675His)	AKAP11 (Q675H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280340	NM_016248.4(AKAP11):c.5141A>T (p.Gln1714Leu)	AKAP11 (Q1714L)	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 3104889	NM_016248.4(AKAP11):c.836G>T (p.Arg279Met)	AKAP11, LOC126861749 (R279M)	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 3104878	NM_016248.4(AKAP11):c.589G>C (p.Glu197Gln)	AKAP11, LOC126861749 (E197Q)	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 3104861	NM_016248.4(AKAP11):c.5293T>C (p.Trp1765Arg)	AKAP11 (W1765R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104821	NM_016248.4(AKAP11):c.4638A>T (p.Lys1546Asn)	AKAP11 (K1546N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104800	NM_016248.4(AKAP11):c.4190C>T (p.Pro1397Leu)	AKAP11 (P1397L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104775	NM_016248.4(AKAP11):c.3851A>T (p.Lys1284Met)	AKAP11 (K1284M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104773	NM_016248.4(AKAP11):c.3841A>G (p.Met1281Val)	AKAP11 (M1281V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3104750	NM_016248.4(AKAP11):c.331A>G (p.Ser111Gly)	AKAP11 (S111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3104673	NM_016248.4(AKAP11):c.2221A>G (p.Thr741Ala)	AKAP11 (T741A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3104626	NM_016248.4(AKAP11):c.1481G>A (p.Ser494Asn)	AKAP11 (S494N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3104597	NM_016248.4(AKAP11):c.1213C>T (p.Arg405Cys)	AKAP11 (R405C)	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 3104587	NM_016248.4(AKAP11):c.1115G>T (p.Cys372Phe)	AKAP11 (C372F)	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 3045876	NM_016248.4(AKAP11):c.2708G>A (p.Arg903His)	AKAP11 (R903H)	Single nucleotide variant (missense variant)	AKAP11-related disorder	GLikely benign
Select item 3045819	NM_016248.4(AKAP11):c.3953T>G (p.Phe1318Cys)	AKAP11 (F1318C)	Single nucleotide variant (missense variant)	AKAP11-related disorder	GLikely benign
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 2643792	NM_016248.4(AKAP11):c.3767_3769del (p.Leu1256del)	AKAP11 (L1256del)	Deletion (inframe_deletion)	not provided	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 2614902	NM_016248.4(AKAP11):c.773A>G (p.His258Arg)	AKAP11, LOC126861749 (H258R)	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 2608726	NM_016248.4(AKAP11):c.5371G>T (p.Asp1791Tyr)	AKAP11 (D1791Y)	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 2604707	NM_016248.4(AKAP11):c.5213A>G (p.Asn1738Ser)	AKAP11 (N1738S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601413	NM_016248.4(AKAP11):c.5311G>A (p.Glu1771Lys)	AKAP11 (E1771K)	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 2594904	NM_016248.4(AKAP11):c.1733A>G (p.Asn578Ser)	AKAP11 (N578S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565077	NM_016248.4(AKAP11):c.4604A>G (p.Asn1535Ser)	AKAP11 (N1535S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557819	NM_016248.4(AKAP11):c.4007C>T (p.Pro1336Leu)	AKAP11 (P1336L)	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 2554279	NM_016248.4(AKAP11):c.3499A>T (p.Met1167Leu)	AKAP11 (M1167L)	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 2548957	NM_016248.4(AKAP11):c.1921A>C (p.Asn641His)	AKAP11 (N641H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547822	NM_016248.4(AKAP11):c.4952C>G (p.Ala1651Gly)	AKAP11 (A1651G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547820	NM_016248.4(AKAP11):c.4951G>T (p.Ala1651Ser)	AKAP11 (A1651S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546915	NM_016248.4(AKAP11):c.5363G>C (p.Gly1788Ala)	AKAP11 (G1788A)	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 2537691	NM_016248.4(AKAP11):c.2389A>G (p.Thr797Ala)	AKAP11 (T797A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527971	NM_016248.4(AKAP11):c.4525A>C (p.Lys1509Gln)	AKAP11 (K1509Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507946	NM_016248.4(AKAP11):c.4432G>A (p.Val1478Ile)	AKAP11 (V1478I)	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 2495342	NM_016248.4(AKAP11):c.2894C>T (p.Ala965Val)	AKAP11 (A965V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493443	NM_016248.4(AKAP11):c.4922A>T (p.His1641Leu)	AKAP11 (H1641L)	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 2487854	NM_016248.4(AKAP11):c.2648T>A (p.Ile883Lys)	AKAP11 (I883K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486909	NM_016248.4(AKAP11):c.4175A>G (p.Asn1392Ser)	AKAP11 (N1392S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2481264	NM_016248.4(AKAP11):c.4090A>G (p.Met1364Val)	AKAP11 (M1364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460867	NM_016248.4(AKAP11):c.5020G>A (p.Asp1674Asn)	AKAP11 (D1674N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459789	NM_016248.4(AKAP11):c.4185G>A (p.Met1395Ile)	AKAP11 (M1395I)	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 2454230	NM_016248.4(AKAP11):c.2821C>T (p.Arg941Trp)	AKAP11 (R941W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424733	NC_000013.10:g.(?_41367363)_(43181054_?)dup	MTRF1, TNFSF11 +10 more	Duplication	not provided	GUncertain significance
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 2411011	NM_016248.4(AKAP11):c.3632C>G (p.Thr1211Ser)	AKAP11 (T1211S)	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 2410105	NM_016248.4(AKAP11):c.5032G>A (p.Gly1678Arg)	AKAP11 (G1678R)	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 2396183	NM_016248.4(AKAP11):c.2002C>T (p.Pro668Ser)	AKAP11 (P668S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395036	NM_016248.4(AKAP11):c.3916A>G (p.Ile1306Val)	AKAP11 (I1306V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391619	NM_016248.4(AKAP11):c.4713C>A (p.Asp1571Glu)	AKAP11 (D1571E)	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 2385408	NM_016248.4(AKAP11):c.2707C>T (p.Arg903Cys)	AKAP11 (R903C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384074	NM_016248.4(AKAP11):c.3998A>G (p.Tyr1333Cys)	AKAP11 (Y1333C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378995	NM_016248.4(AKAP11):c.4535A>G (p.Gln1512Arg)	AKAP11 (Q1512R)	Single nucleotide variant (missense variant)	not specified	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
Select item 2369694	NM_016248.4(AKAP11):c.5462C>T (p.Thr1821Met)	AKAP11 (T1821M)	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 2357922	NM_016248.4(AKAP11):c.3784G>T (p.Asp1262Tyr)	AKAP11 (D1262Y)	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 2321055	NM_016248.4(AKAP11):c.2574A>C (p.Glu858Asp)	AKAP11 (E858D)	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 2307841	NM_016248.4(AKAP11):c.2852T>C (p.Ile951Thr)	AKAP11 (I951T)	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 2293849	NM_016248.4(AKAP11):c.4837G>C (p.Ala1613Pro)	AKAP11 (A1613P)	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 2289733	NM_016248.4(AKAP11):c.2477G>C (p.Arg826Thr)	AKAP11 (R826T)	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 2286429	NM_016248.4(AKAP11):c.4666C>G (p.Leu1556Val)	AKAP11 (L1556V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2266355	NM_016248.4(AKAP11):c.5251A>G (p.Ser1751Gly)	AKAP11 (S1751G)	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

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