"Genome-Nilou Lab"[submitter] AND "AKAP9"[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360809	NM_005751.5(AKAP9):c.-124G>C	AKAP9	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +2 more	GBenign/Likely benign
Select item 136346	NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu)	AKAP9 (S27L)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 518860	NM_005751.5(AKAP9):c.81G>A (p.Ser27=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 191549	NM_005751.5(AKAP9):c.139C>T (p.His47Tyr)	AKAP9 (H47Y)	Single nucleotide variant (missense variant)	Atrial fibrillation +9 more	GBenign/Likely benign
Select item 518725	NM_005751.5(AKAP9):c.492G>A (p.Leu164=)	AKAP9	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 698026	NM_005751.5(AKAP9):c.717G>A (p.Gln239=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 219401	NM_005751.5(AKAP9):c.747A>G (p.Glu249=)	AKAP9, LOC129998789	Single nucleotide variant (synonymous variant)	Long QT syndrome +5 more	GBenign/Likely benign
Select item 457124	NM_005751.5(AKAP9):c.813C>T (p.Leu271=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +3 more	GBenign/Likely benign
Select item 263785	NM_005751.5(AKAP9):c.948A>G (p.Val316=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 518710	NM_005751.5(AKAP9):c.1053A>G (p.Lys351=)	AKAP9	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 191550	NM_005751.5(AKAP9):c.1301G>A (p.Arg434Gln)	AKAP9 (R434Q)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +5 more	GBenign/Likely benign
Select item 191551	NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro)	AKAP9 (A458P)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +5 more	GBenign/Likely benign
Select item 136347	NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile)	AKAP9 (M463I)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +5 more	GBenign
Select item 136348	NM_005751.5(AKAP9):c.1536C>T (p.Leu512=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 518806	NM_005751.5(AKAP9):c.1575T>C (p.Ala525=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 190506	NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val)	AKAP9 (I809V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 263768	NM_005751.5(AKAP9):c.2782T>C (p.Leu928=)	AKAP9	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +5 more	GBenign/Likely benign
Select item 917554	NM_005751.5(AKAP9):c.3066A>G (p.Gly1022=)	AKAP9	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 136349	NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=)	AKAP9	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 221111	NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 457097	NM_005751.5(AKAP9):c.3246A>G (p.Ser1082=)	AKAP9	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 360821	NM_005751.5(AKAP9):c.3318+13C>A	AKAP9	Single nucleotide variant (intron variant)	Congenital long QT syndrome +4 more	GBenign/Likely benign
Select item 136350	NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=)	AKAP9	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 417030	NM_005751.5(AKAP9):c.3624T>C (p.Ser1208=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +4 more	GBenign/Likely benign
Select item 191552	NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln)	AKAP9 (R1276Q)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +5 more	GBenign/Likely benign
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 190508	NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln)	AKAP9	Duplication (inframe_insertion)	Long QT syndrome 11 +5 more	GBenign/Likely benign
Select item 519486	NM_005751.5(AKAP9):c.4143G>A (p.Pro1381=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 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 671867	NM_005751.5(AKAP9):c.4149-59C>G	AKAP9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 191553	NM_005751.5(AKAP9):c.4199T>C (p.Met1400Thr)	AKAP9 (M1400T)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 671869	NM_005751.5(AKAP9):c.4339-41T>G	AKAP9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 191554	NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His)	AKAP9 (D1507H)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 696357	NM_005751.5(AKAP9):c.4825A>C (p.Arg1609=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +3 more	GBenign/Likely benign
Select item 136330	NM_005751.5(AKAP9):c.4841G>A (p.Arg1614Gln)	AKAP9 (R1614Q)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 190487	NM_005751.5(AKAP9):c.5058+12T>G	AKAP9, LOC121175350	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 136331	NM_005751.5(AKAP9):c.5163-20G>A	AKAP9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 136332	NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr)	AKAP9 (I1749T)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 417021	NM_005751.5(AKAP9):c.5428A>G (p.Met1810Val)	AKAP9 (M1810V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 136333	NM_005751.5(AKAP9):c.5778C>T (p.Gly1926=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +5 more	GBenign/Likely benign
Select item 417031	NM_005751.5(AKAP9):c.6134A>G (p.Asn2045Ser)	AKAP9 (N2045S +1 more)	Single nucleotide variant (missense variant)	not specified +4 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 417025	NM_005751.5(AKAP9):c.6331-8T>C	AKAP9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 191520	NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro)	AKAP9 (S2186P +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 264046	NM_005751.5(AKAP9):c.6696A>G (p.Gln2232=)	AKAP9	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 263446	NM_005751.5(AKAP9):c.6921A>G (p.Gln2307=)	AKAP9	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 136335	NM_005751.5(AKAP9):c.6945+8C>T	AKAP9	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 457118	NM_005751.5(AKAP9):c.7221A>G (p.Glu2407=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 136337	NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +4 more	GBenign/Likely benign
Select item 136338	NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg)	AKAP9 (K2484R +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +5 more	GBenign/Likely benign
Select item 136339	NM_005751.5(AKAP9):c.7638A>G (p.Ile2546Met)	AKAP9 (I2546M +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +4 more	GBenign/Likely benign
Select item 240260	NM_005751.5(AKAP9):c.7683T>C (p.Leu2561=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 671885	NM_005751.5(AKAP9):c.8020-45A>G	AKAP9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 136340	NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser)	AKAP9 (N2792S +2 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 263541	NM_005751.5(AKAP9):c.8485G>A (p.Glu2829Lys)	AKAP9 (E2829K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +5 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 136341	NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +5 more	GBenign/Likely benign
Select item 136342	NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser)	AKAP9 (P2979S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +5 more	GBenign/Likely benign
Select item 191555	NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg)	AKAP9 (Q3031R +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +6 more	GBenign/Likely benign
Select item 699645	NM_005751.5(AKAP9):c.9124C>T (p.Leu3042=)	AKAP9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 136343	NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=)	AKAP9	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
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 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 191524	NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln)	AKAP9 (R3310Q +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GBenign/Likely benign
Select item 215511	NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 191556	NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg)	AKAP9 (Q3444R +2 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +5 more	GBenign/Likely benign
Select item 136344	NM_005751.5(AKAP9):c.10426A>C (p.Arg3476=)	AKAP9	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 671886	NM_005751.5(AKAP9):c.10608-38G>A	AKAP9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 360848	NM_005751.5(AKAP9):c.10608-15G>C	AKAP9	Single nucleotide variant (intron variant)	Congenital long QT syndrome +4 more	GBenign/Likely benign
Select item 136345	NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val)	AKAP9, CYP51A1 (M3614V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +6 more	GBenign/Likely benign
Select item 360850	NM_005751.5(AKAP9):c.10845G>A (p.Lys3615=)	AKAP9	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +4 more	GBenign/Likely benign
Select item 191557	NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val)	AKAP9 (I3620V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +5 more	GBenign/Likely 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 1217251	NM_005751.5(AKAP9):c.11098-13T>G	AKAP9	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 191528	NM_005751.5(AKAP9):c.11135G>A (p.Arg3712Gln)	AKAP9 (R3712Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 190497	NM_005751.5(AKAP9):c.11225G>C (p.Arg3742Pro)	AKAP9 (R3742P +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +3 more	GBenign/Likely benign
Select item 191531	NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His)	AKAP9 (R3758H +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GBenign/Likely 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 457084	NM_005751.5(AKAP9):c.11300C>T (p.Ser3767Leu)	AKAP9 (S3767L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 698545	NM_005751.5(AKAP9):c.11330+7A>G	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign
Select item 360854	NM_005751.5(AKAP9):c.11331-11A>T	AKAP9	Single nucleotide variant (intron variant)	Congenital long QT syndrome +4 more	GBenign/Likely benign
Select item 671887	NM_005751.5(AKAP9):c.11546+58T>A	AKAP9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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Items: 84