ClinVar for MedGen (Select 437218) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068303	NM_005751.5(AKAP9):c.5528T>A (p.Met1843Lys)	AKAP9 (M1843K)	Single nucleotide variant (missense variant)	Long QT syndrome 11	GUncertain significance
Select item 2501752	NM_005751.5(AKAP9):c.406GAA[2] (p.Glu138del)	AKAP9 (E138del)	Microsatellite (inframe_indel +1 more)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 2500026	NM_005751.5(AKAP9):c.10888A>G (p.Arg3630Gly)	AKAP9 (R1845G +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11	GUncertain significance
Select item 2441804	NM_005751.5(AKAP9):c.1243G>A (p.Glu415Lys)	AKAP9 (E415K)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 2438956	NM_005751.5(AKAP9):c.8458A>G (p.Ile2820Val)	AKAP9 (I1035V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11	GUncertain significance
Select item 2438955	NM_005751.5(AKAP9):c.5669C>A (p.Thr1890Lys)	AKAP9 (T105K +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11	GUncertain significance
Select item 1754722	NM_005751.5(AKAP9):c.665A>G (p.Asp222Gly)	AKAP9 (D222G)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +1 more	GConflicting classifications of pathogenicity
Select item 1709631	NM_005751.5(AKAP9):c.6148G>T (p.Asp2050Tyr)	AKAP9 (D2050Y +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11	GUncertain significance
Select item 1709096	NM_005751.5(AKAP9):c.4175C>T (p.Thr1392Ile)	AKAP9 (T1392I)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1699378	NM_005751.5(AKAP9):c.10979T>G (p.Leu3660Trp)	AKAP9 (L1875W +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11	GUncertain significance
Select item 1677683	NM_005751.5(AKAP9):c.4858C>T (p.Arg1620Ter)	AKAP9 (R1620*)	Single nucleotide variant (nonsense)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 1677585	NM_005751.5(AKAP9):c.6916C>T (p.Gln2306Ter)	AKAP9 (Q2298* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1677565	NM_005751.5(AKAP9):c.1870_1871del (p.Arg624fs)	AKAP9 (R624fs)	Microsatellite (frameshift variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1677539	NM_005751.5(AKAP9):c.3952+2T>G	AKAP9	Single nucleotide variant (splice donor variant)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 1628099	NM_005751.5(AKAP9):c.3426T>C (p.Ala1142=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1505527	NM_005751.5(AKAP9):c.10315A>G (p.Ile3439Val)	AKAP9 (I1654V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1504131	NM_005751.5(AKAP9):c.4552A>G (p.Ser1518Gly)	AKAP9 (S1518G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1497491	NM_005751.5(AKAP9):c.11213C>T (p.Ala3738Val)	AKAP9 (A1953V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1491561	NM_005751.5(AKAP9):c.604C>G (p.Gln202Glu)	AKAP9 (Q202E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1472450	NM_005751.5(AKAP9):c.9969C>A (p.His3323Gln)	AKAP9 (H3315Q +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 1471062	NM_005751.5(AKAP9):c.9910T>A (p.Ser3304Thr)	AKAP9 (S3296T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1469280	NM_005751.5(AKAP9):c.9349C>A (p.Pro3117Thr)	AKAP9 (P3117T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1468474	NM_005751.5(AKAP9):c.1034C>T (p.Thr345Ile)	AKAP9 (T345I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1466488	NM_005751.5(AKAP9):c.10061A>G (p.Glu3354Gly)	AKAP9 (E3346G +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1463820	NM_005751.5(AKAP9):c.4348T>A (p.Ser1450Thr)	AKAP9 (S1450T)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1462124	NM_005751.5(AKAP9):c.3864G>A (p.Met1288Ile)	AKAP9 (M1288I)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1461248	NM_005751.5(AKAP9):c.3563T>C (p.Ile1188Thr)	AKAP9 (I1188T)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1448239	NM_005751.5(AKAP9):c.4184A>C (p.Asp1395Ala)	AKAP9 (D1395A)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1447323	NM_005751.5(AKAP9):c.10713+4A>G	AKAP9	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1438185	NM_005751.5(AKAP9):c.10196C>A (p.Thr3399Asn)	AKAP9 (T3399N +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 1437996	NM_005751.5(AKAP9):c.11291G>A (p.Arg3764Lys)	AKAP9 (R3756K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 1436122	NM_005751.5(AKAP9):c.4550T>C (p.Leu1517Pro)	AKAP9 (L1517P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1432317	NM_005751.5(AKAP9):c.2368A>G (p.Met790Val)	AKAP9 (M790V)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1426673	NM_005751.5(AKAP9):c.10643T>C (p.Ile3548Thr)	AKAP9 (I3548T +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1418465	NM_005751.5(AKAP9):c.7213G>A (p.Ala2405Thr)	AKAP9 (A620T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1416994	NM_005751.5(AKAP9):c.10738T>A (p.Ser3580Thr)	AKAP9 (S3580T +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1416669	NM_005751.5(AKAP9):c.9814G>A (p.Glu3272Lys)	AKAP9 (E1487K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1414951	NM_005751.5(AKAP9):c.5638C>T (p.Arg1880Cys)	AKAP9 (R1880C +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 1412647	NM_005751.5(AKAP9):c.3448C>T (p.Leu1150Phe)	AKAP9 (L1150F)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1411073	NM_005751.5(AKAP9):c.3685A>G (p.Asn1229Asp)	AKAP9 (N1229D)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1409000	NM_005751.5(AKAP9):c.8283C>T (p.Ser2761=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 1403962	NM_005751.5(AKAP9):c.9425G>T (p.Ser3142Ile)	AKAP9 (S1357I +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 1403793	NM_005751.5(AKAP9):c.7363A>G (p.Ile2455Val)	AKAP9 (I2447V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 1403513	NM_005751.5(AKAP9):c.6195G>A (p.Met2065Ile)	AKAP9 (M280I +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1402564	NM_005751.5(AKAP9):c.3934A>C (p.Thr1312Pro)	AKAP9 (T1312P)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 1401389	NM_005751.5(AKAP9):c.4282A>G (p.Ile1428Val)	AKAP9 (I1428V)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 1400985	NM_005751.5(AKAP9):c.8314A>G (p.Ile2772Val)	AKAP9 (I987V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1397495	NM_005751.5(AKAP9):c.3744A>C (p.Glu1248Asp)	AKAP9 (E1248D)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 1395913	NM_005751.5(AKAP9):c.2363A>C (p.Glu788Ala)	AKAP9 (E788A)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1385996	NM_005751.5(AKAP9):c.5752A>G (p.Ser1918Gly)	AKAP9 (S1918G +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1370771	NM_005751.5(AKAP9):c.8112A>C (p.Glu2704Asp)	AKAP9 (E2696D +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 1363528	NM_005751.5(AKAP9):c.793C>G (p.Gln265Glu)	AKAP9, LOC129998789 (Q265E)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 1357115	NM_005751.5(AKAP9):c.4070C>T (p.Thr1357Ile)	AKAP9 (T1357I)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 1352579	NM_005751.5(AKAP9):c.11494C>T (p.Arg3832Cys)	AKAP9 (R2047C +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 1346722	NM_005751.5(AKAP9):c.11342T>C (p.Leu3781Ser)	AKAP9 (L1996S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1343612	NM_005751.5(AKAP9):c.3952+14A>G	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome 11 +2 more	GBenign/Likely benign
Select item 1292469	NM_005751.5(AKAP9):c.8646+59del	AKAP9	Deletion (intron variant)	Long QT syndrome 11 +1 more	GBenign
Select item 1291446	NM_005751.5(AKAP9):c.8646+49A>T	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome 11 +1 more	GBenign
Select item 1284691	NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys)	AKAP9 (T1131K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1284664	NM_005751.5(AKAP9):c.9358+11T>C	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 1284437	NM_005751.5(AKAP9):c.5680A>G (p.Lys1894Glu)	AKAP9 (K109E +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1263637	NM_005751.5(AKAP9):c.4918-10dup	AKAP9	Duplication (intron variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 1239019	NM_005751.5(AKAP9):c.9729+17C>T	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 1234949	NM_005751.5(AKAP9):c.4148+18G>C	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome 11 +3 more	GBenign/Likely benign
Select item 1225061	NM_005751.5(AKAP9):c.6508-20A>T	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 1217251	NM_005751.5(AKAP9):c.11098-13T>G	AKAP9	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1207057	NM_005751.5(AKAP9):c.6330+19T>C	AKAP9	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1149697	NM_005751.5(AKAP9):c.261A>G (p.Leu87=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +2 more	GLikely benign
Select item 1148462	NM_005751.5(AKAP9):c.10887T>C (p.Gly3629=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 1126211	NM_005751.5(AKAP9):c.11682G>A (p.Gln3894=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +2 more	GLikely benign
Select item 1094662	NM_005751.5(AKAP9):c.11298G>A (p.Arg3766=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 1091336	NM_005751.5(AKAP9):c.6681A>G (p.Gln2227=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 1088028	NM_005751.5(AKAP9):c.1044A>C (p.Leu348=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +1 more	GLikely benign
Select item 1081466	NM_005751.5(AKAP9):c.8161-7G>A	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome 11 +1 more	GLikely benign
Select item 1063710	NM_005751.5(AKAP9):c.7989AAG[1] (p.Arg2664del)	AKAP9 (R2656del +2 more)	Microsatellite (inframe_deletion)	Long QT syndrome +1 more	GUncertain significance
Select item 1063247	NM_005751.5(AKAP9):c.3381T>G (p.His1127Gln)	AKAP9 (H1127Q)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +3 more	GUncertain significance
Select item 1063208	NM_005751.5(AKAP9):c.10818G>T (p.Lys3606Asn)	AKAP9 (K1821N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1058127	NM_005751.5(AKAP9):c.9182T>C (p.Leu3061Pro)	AKAP9 (L1276P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1056109	NM_005751.5(AKAP9):c.11491T>C (p.Tyr3831His)	AKAP9 (Y2046H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1053053	NM_005751.5(AKAP9):c.4638_4641del (p.Thr1547fs)	AKAP9 (T1547fs)	Deletion (frameshift variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1052653	NM_005751.5(AKAP9):c.7114A>G (p.Met2372Val)	AKAP9 (M2364V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1039310	NM_005751.5(AKAP9):c.8654C>T (p.Ser2885Leu)	AKAP9 (S2877L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1037494	NM_005751.5(AKAP9):c.10019C>T (p.Pro3340Leu)	AKAP9 (P3332L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1035224	NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys)	AKAP9 (E1265K)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 1031572	NM_005751.5(AKAP9):c.9838C>G (p.Gln3280Glu)	AKAP9 (Q1495E +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11	GUncertain significance
Select item 1027262	NM_005751.5(AKAP9):c.4331T>C (p.Val1444Ala)	AKAP9 (V1444A)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1024945	NM_005751.5(AKAP9):c.1655C>T (p.Ala552Val)	AKAP9 (A552V)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 1023407	NM_005751.5(AKAP9):c.211C>G (p.Gln71Glu)	AKAP9 (Q71E)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 1023062	NM_005751.5(AKAP9):c.4598G>A (p.Ser1533Asn)	AKAP9 (S1533N)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 1015297	NM_005751.5(AKAP9):c.11231G>C (p.Gly3744Ala)	AKAP9 (G1959A +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 1008534	NM_005751.5(AKAP9):c.8783G>A (p.Arg2928Gln)	AKAP9 (R1143Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1007870	NM_005751.5(AKAP9):c.10547G>A (p.Arg3516Lys)	AKAP9 (R1731K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 1005739	NM_005751.5(AKAP9):c.6098A>G (p.Gln2033Arg)	AKAP9 (Q248R +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1005329	NM_005751.5(AKAP9):c.6676G>A (p.Val2226Ile)	AKAP9 (V2218I +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 1000463	NM_005751.5(AKAP9):c.6970A>G (p.Ile2324Val)	AKAP9 (I2316V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 998935	NM_005751.5(AKAP9):c.4328A>T (p.Glu1443Val)	AKAP9 (E1443V)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 967044	NM_005751.5(AKAP9):c.3299A>G (p.Asn1100Ser)	AKAP9 (N1100S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 965818	NM_005751.5(AKAP9):c.1226A>C (p.His409Pro)	AKAP9 (H409P)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 965397	NM_005751.5(AKAP9):c.9022G>A (p.Glu3008Lys)	AKAP9 (E1223K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 943375	NM_005751.5(AKAP9):c.11351G>A (p.Arg3784Gln)	AKAP9 (R3784Q +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +1 more	GUncertain significance

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