C2678483[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360808	NM_005751.5(AKAP9):c.-160G>A	AKAP9	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 412028	NM_005751.5(AKAP9):c.41A>C (p.Lys14Thr)	AKAP9, LOC129998788 (K14T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 940058	NM_005751.5(AKAP9):c.48+5G>A	AKAP9, LOC129998788	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 411962	NM_005751.5(AKAP9):c.61C>T (p.Arg21Ter)	AKAP9 (R21*)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 136346	NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu)	AKAP9 (S27L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1023407	NM_005751.5(AKAP9):c.211C>G (p.Gln71Glu)	AKAP9 (Q71E)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
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 190501	NM_005751.5(AKAP9):c.288G>T (p.Glu96Asp)	AKAP9 (E96D)	Single nucleotide variant (missense variant)	not specified +4 more	GLikely benign
Select item 519409	NM_005751.5(AKAP9):c.464C>A (p.Thr155Asn)	AKAP9 (T155N)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 648320	NM_005751.5(AKAP9):c.547G>A (p.Val183Ile)	AKAP9 (V183I)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +1 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 190513	NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn)	AKAP9 (D204N)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +3 more	GLikely benign
Select item 519322	NM_005751.5(AKAP9):c.674T>C (p.Met225Thr)	AKAP9 (M225T)	Single nucleotide variant (missense variant)	Long QT syndrome +2 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 +1 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 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 519331	NM_005751.5(AKAP9):c.1204G>A (p.Glu402Lys)	AKAP9 (E402K)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +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 11 +2 more	GUncertain significance
Select item 220956	NM_005751.5(AKAP9):c.1262G>A (p.Arg421Gln)	AKAP9 (R421Q)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 457089	NM_005751.5(AKAP9):c.1334T>C (p.Ile445Thr)	AKAP9 (I445T)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +3 more	GConflicting classifications of pathogenicity
Select item 518665	NM_005751.5(AKAP9):c.1508A>G (p.Gln503Arg)	AKAP9 (Q503R)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 136348	NM_005751.5(AKAP9):c.1536C>T (p.Leu512=)	AKAP9	Single nucleotide variant (synonymous variant)	AKAP9-related disorder +4 more	GBenign/Likely benign
Select item 1024945	NM_005751.5(AKAP9):c.1655C>T (p.Ala552Val)	AKAP9 (A552V)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 191383	NM_005751.5(AKAP9):c.1685A>G (p.His562Arg)	AKAP9 (H562R)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 839002	NM_005751.5(AKAP9):c.1700C>T (p.Thr567Ile)	AKAP9 (T567I)	Single nucleotide variant (missense variant)	Long QT syndrome +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 519315	NM_005751.5(AKAP9):c.1900G>A (p.Glu634Lys)	AKAP9 (E634K)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 526965	NM_005751.5(AKAP9):c.2113T>G (p.Leu705Val)	AKAP9 (L705V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 240250	NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr)	AKAP9 (A771T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1395913	NM_005751.5(AKAP9):c.2363A>C (p.Glu788Ala)	AKAP9 (E788A)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 1432317	NM_005751.5(AKAP9):c.2368A>G (p.Met790Val)	AKAP9 (M790V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 190506	NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val)	AKAP9 (I809V)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +5 more	GBenign/Likely benign
Select item 940279	NM_005751.5(AKAP9):c.2743T>A (p.Ser915Thr)	AKAP9 (S915T)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 263768	NM_005751.5(AKAP9):c.2782T>C (p.Leu928=)	AKAP9	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 849537	NM_005751.5(AKAP9):c.2812A>G (p.Thr938Ala)	AKAP9 (T938A)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 519347	NM_005751.5(AKAP9):c.3083G>A (p.Ser1028Asn)	AKAP9 (S1028N)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 457096	NM_005751.5(AKAP9):c.3118A>G (p.Lys1040Glu)	AKAP9 (K1040E)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 967044	NM_005751.5(AKAP9):c.3299A>G (p.Asn1100Ser)	AKAP9 (N1100S)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 1063247	NM_005751.5(AKAP9):c.3381T>G (p.His1127Gln)	AKAP9 (H1127Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1412647	NM_005751.5(AKAP9):c.3448C>T (p.Leu1150Phe)	AKAP9 (L1150F)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +3 more	GConflicting classifications of pathogenicity
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 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 666370	NM_005751.5(AKAP9):c.3736A>G (p.Arg1246Gly)	AKAP9 (R1246G)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 1397495	NM_005751.5(AKAP9):c.3744A>C (p.Glu1248Asp)	AKAP9 (E1248D)	Single nucleotide variant (missense variant)	Long QT syndrome +2 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 +2 more	GUncertain significance
Select item 939754	NM_005751.5(AKAP9):c.3838-4A>G	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome 11 +2 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 1402564	NM_005751.5(AKAP9):c.3934A>C (p.Thr1312Pro)	AKAP9 (T1312P)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
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 180267	NM_005751.5(AKAP9):c.3953-3T>C	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GUncertain significance
Select item 618524	NM_005751.5(AKAP9):c.3994G>C (p.Glu1332Gln)	AKAP9 (E1332Q)	Single nucleotide variant (missense variant)	not provided +3 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 935988	NM_005751.5(AKAP9):c.4131G>C (p.Glu1377Asp)	AKAP9 (E1377D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 838911	NM_005751.5(AKAP9):c.4136C>T (p.Thr1379Met)	AKAP9 (T1379M)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 191386	NM_005751.5(AKAP9):c.4156G>T (p.Val1386Phe)	AKAP9 (V1386F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 457099	NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu)	AKAP9 (S1388L)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 1448239	NM_005751.5(AKAP9):c.4184A>C (p.Asp1395Ala)	AKAP9 (D1395A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 360826	NM_005751.5(AKAP9):c.4253G>A (p.Gly1418Asp)	AKAP9 (G1418D)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +3 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 +2 more	GUncertain significance
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 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 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 264112	NM_005751.5(AKAP9):c.4360G>A (p.Ala1454Thr)	AKAP9 (A1454T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 931764	NM_005751.5(AKAP9):c.4367C>A (p.Ala1456Asp)	AKAP9 (A1456D)	Single nucleotide variant (missense variant)	Long QT syndrome 11	GUncertain significance
Select item 651545	NM_005751.5(AKAP9):c.4394C>A (p.Ser1465Tyr)	AKAP9 (S1465Y)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 360828	NM_005751.5(AKAP9):c.4534GAA[1] (p.Glu1513del)	AKAP9 (E1513del)	Microsatellite (inframe_deletion)	Long QT syndrome +3 more	GUncertain significance
Select item 1436122	NM_005751.5(AKAP9):c.4550T>C (p.Leu1517Pro)	AKAP9 (L1517P)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 1504131	NM_005751.5(AKAP9):c.4552A>G (p.Ser1518Gly)	AKAP9 (S1518G)	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 +2 more	GConflicting classifications of pathogenicity
Select item 1053053	NM_005751.5(AKAP9):c.4638_4641del (p.Thr1547fs)	AKAP9 (T1547fs)	Deletion (frameshift variant)	Long QT syndrome 11 +1 more	GUncertain significance
Select item 5883	NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu)	AKAP9 (S1570L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 546501	NM_005751.5(AKAP9):c.4840C>T (p.Arg1614Trp)	AKAP9 (R1614W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 136330	NM_005751.5(AKAP9):c.4841G>A (p.Arg1614Gln)	AKAP9 (R1614Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
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 1263637	NM_005751.5(AKAP9):c.4918-10dup	AKAP9	Duplication (intron variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 639119	NM_005751.5(AKAP9):c.5035C>T (p.Arg1679Cys)	AKAP9, LOC121175350 (R1679C)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 691719	NM_005751.5(AKAP9):c.5036G>A (p.Arg1679His)	AKAP9, LOC121175350 (R1679H)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 240254	NM_005751.5(AKAP9):c.5048C>T (p.Thr1683Met)	AKAP9, LOC121175350 (T1683M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 527000	NM_005751.5(AKAP9):c.5078_5080del (p.Gly1693del)	AKAP9 (G1693del)	Deletion (inframe_deletion)	Long QT syndrome +3 more	GUncertain significance
Select item 136332	NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr)	AKAP9 (I1749T)	Single nucleotide variant (missense variant)	unspecified heart condition +5 more	GBenign/Likely benign
Select item 412019	NM_005751.5(AKAP9):c.5251C>T (p.Arg1751Cys)	AKAP9 (R1751C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 856010	NM_005751.5(AKAP9):c.5356G>A (p.Glu1786Lys)	AKAP9 (E1786K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 810123	NM_005751.5(AKAP9):c.5368+4C>T	AKAP9	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 457107	NM_005751.5(AKAP9):c.5369-3T>C	AKAP9	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 941022	NM_005751.5(AKAP9):c.5467C>G (p.Gln1823Glu)	AKAP9 (Q1823E)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 412018	NM_005751.5(AKAP9):c.5468A>T (p.Gln1823Leu)	AKAP9 (Q1823L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 360830	NM_005751.5(AKAP9):c.5496A>G (p.Gly1832=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
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 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 457113	NM_005751.5(AKAP9):c.5752A>C (p.Ser1918Arg)	AKAP9 (S1918R +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GUncertain significance
Select item 565741	NM_005751.5(AKAP9):c.6004A>G (p.Met2002Val)	AKAP9 (M2002V +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 663376	NM_005751.5(AKAP9):c.6035C>G (p.Ala2012Gly)	AKAP9 (A2012G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Cardiovascular phenotype +2 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 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 643974	NM_005751.5(AKAP9):c.6518G>A (p.Arg2173Gln)	AKAP9 (R2165Q +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1005329	NM_005751.5(AKAP9):c.6676G>A (p.Val2226Ile)	AKAP9 (V2218I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1091336	NM_005751.5(AKAP9):c.6681A>G (p.Gln2227=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +3 more	GLikely benign
Select item 360836	NM_005751.5(AKAP9):c.6896A>G (p.Glu2299Gly)	AKAP9 (E2299G +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
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

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