"PreventionGenetics, part of Exact Sciences"[submitter] AND "AKAP9"[ge - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 240257	NM_005751.5(AKAP9):c.645A>G (p.Gln215=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 191513	NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr)	AKAP9 (I324T)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 684836	NM_005751.5(AKAP9):c.1203C>T (p.Val401=)	AKAP9	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 136347	NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile)	AKAP9 (M463I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign
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 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 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 702859	NM_005751.5(AKAP9):c.2559T>C (p.Ala853=)	AKAP9	Single nucleotide variant (synonymous variant)	AKAP9-related disorder +2 more	GLikely benign
Select item 953601	NM_005751.5(AKAP9):c.2704T>G (p.Leu902Val)	AKAP9 (L902V)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 457095	NM_005751.5(AKAP9):c.2945C>A (p.Ser982Tyr)	AKAP9 (S982Y)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 958672	NM_005751.5(AKAP9):c.2997C>G (p.Ile999Met)	AKAP9 (I999M)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 136349	NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=)	AKAP9	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +4 more	GBenign/Likely benign
Select item 519370	NM_005751.5(AKAP9):c.3345C>G (p.Ala1115=)	AKAP9	Single nucleotide variant (synonymous variant)	AKAP9-related disorder +2 more	GLikely benign
Select item 651023	NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His)	AKAP9 (R1117H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 240252	NM_005751.5(AKAP9):c.3430T>C (p.Cys1144Arg)	AKAP9 (C1144R)	Single nucleotide variant (missense variant)	Ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
Select item 136350	NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=)	AKAP9	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +4 more	GBenign/Likely benign
Select item 180262	NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr)	AKAP9 (A1194T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 190508	NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln)	AKAP9	Duplication (inframe_insertion)	Long QT syndrome +5 more	GBenign/Likely benign
Select item 519486	NM_005751.5(AKAP9):c.4143G>A (p.Pro1381=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +4 more	GBenign/Likely benign
Select item 191516	NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg)	AKAP9 (Q1397R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 519272	NM_005751.5(AKAP9):c.4259T>G (p.Phe1420Cys)	AKAP9 (F1420C)	Single nucleotide variant (missense variant)	AKAP9-related disorder +2 more	GLikely benign
Select item 360827	NM_005751.5(AKAP9):c.4293G>A (p.Leu1431=)	AKAP9	Single nucleotide variant (synonymous variant)	AKAP9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 191554	NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His)	AKAP9 (D1507H)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +6 more	GBenign/Likely benign
Select item 696357	NM_005751.5(AKAP9):c.4825A>C (p.Arg1609=)	AKAP9	Single nucleotide variant (synonymous variant)	AKAP9-related disorder +4 more	GBenign/Likely benign
Select item 190485	NM_005751.5(AKAP9):c.4927A>C (p.Ile1643Leu)	AKAP9, LOC121175350 (I1643L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 190486	NM_005751.5(AKAP9):c.4985C>T (p.Ala1662Val)	AKAP9, LOC121175350 (A1662V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 136331	NM_005751.5(AKAP9):c.5163-20G>A	AKAP9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 417029	NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu)	AKAP9 (K1762E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1153560	NM_005751.5(AKAP9):c.5358A>G (p.Glu1786=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 180263	NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly)	AKAP9 (V1790G)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +6 more	GConflicting classifications of pathogenicity
Select item 417021	NM_005751.5(AKAP9):c.5428A>G (p.Met1810Val)	AKAP9 (M1810V)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +4 more	GBenign/Likely benign
Select item 136333	NM_005751.5(AKAP9):c.5778C>T (p.Gly1926=)	AKAP9	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +4 more	GBenign/Likely benign
Select item 360833	NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=)	AKAP9	Single nucleotide variant (synonymous variant)	AKAP9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 220501	NM_005751.5(AKAP9):c.5978-4A>G	AKAP9	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 191518	NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)	AKAP9 (E2013K +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +6 more	GConflicting classifications of pathogenicity
Select item 417031	NM_005751.5(AKAP9):c.6134A>G (p.Asn2045Ser)	AKAP9 (N2045S +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 215513	NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=)	AKAP9	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 136335	NM_005751.5(AKAP9):c.6945+8C>T	AKAP9	Single nucleotide variant (intron variant)	Congenital long QT syndrome +3 more	GBenign/Likely benign
Select item 3061296	NM_005751.5(AKAP9):c.6977A>C (p.Asp2326Ala)	AKAP9 (D2318A +2 more)	Single nucleotide variant (missense variant)	AKAP9-related disorder	GUncertain significance
Select item 136336	NM_005751.5(AKAP9):c.7074A>G (p.Lys2358=)	AKAP9	Single nucleotide variant (synonymous variant)	AKAP9-related disorder +2 more	GLikely benign
Select item 457118	NM_005751.5(AKAP9):c.7221A>G (p.Glu2407=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +3 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)	Cardiovascular phenotype +4 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)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 191393	NM_005751.5(AKAP9):c.7921AAG[1] (p.Lys2642del)	AKAP9 (K2642del +2 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1593462	NM_005751.5(AKAP9):c.8013T>C (p.Val2671=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2635729	NM_005751.5(AKAP9):c.8018A>G (p.Lys2673Arg)	AKAP9 (K2665R +2 more)	Single nucleotide variant (missense variant)	AKAP9-related disorder	GUncertain significance
Select item 191522	NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)	AKAP9 (K2762N +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +5 more	GConflicting classifications of pathogenicity
Select item 136340	NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser)	AKAP9 (N2792S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 136341	NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=)	AKAP9	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +4 more	GBenign/Likely benign
Select item 264513	NM_005751.5(AKAP9):c.8688G>A (p.Gln2896=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 191394	NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys)	AKAP9 (Y2965C +2 more)	Single nucleotide variant (missense variant)	AKAP9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 136342	NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser)	AKAP9 (P2979S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 417027	NM_005751.5(AKAP9):c.8975C>T (p.Ser2992Leu)	AKAP9 (S2992L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GLikely benign
Select item 652879	NM_005751.5(AKAP9):c.9094C>G (p.Gln3032Glu)	AKAP9 (Q3032E +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 417032	NM_005751.5(AKAP9):c.9127G>A (p.Ala3043Thr)	AKAP9 (A3043T +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 136343	NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=)	AKAP9	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +4 more	GBenign/Likely benign
Select item 1367210	NM_005751.5(AKAP9):c.9173T>C (p.Val3058Ala)	AKAP9 (V1273A +2 more)	Single nucleotide variant (missense variant)	AKAP9-related disorder +2 more	GUncertain significance
Select item 2634009	NM_005751.5(AKAP9):c.9334C>A (p.Gln3112Lys)	AKAP9 (Q1327K +2 more)	Single nucleotide variant (missense variant)	AKAP9-related disorder	GUncertain significance
Select item 360845	NM_005751.5(AKAP9):c.9358+10A>G	AKAP9	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1383280	NM_005751.5(AKAP9):c.9709C>T (p.Arg3237Trp)	AKAP9 (R1452W +2 more)	Single nucleotide variant (missense variant)	AKAP9-related disorder +1 more	GUncertain significance
Select item 518754	NM_005751.5(AKAP9):c.9867A>G (p.Ser3289=)	AKAP9	Single nucleotide variant (synonymous variant)	AKAP9-related disorder +2 more	GLikely benign
Select item 3047903	NM_005751.5(AKAP9):c.10270CAA[1] (p.Gln3425del)	AKAP9 (Q1640del +2 more)	Microsatellite (inframe deletion +1 more)	AKAP9-related disorder	GUncertain significance
Select item 136344	NM_005751.5(AKAP9):c.10426A>C (p.Arg3476=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 191526	NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys)	AKAP9 (E3487K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 939655	NM_005751.5(AKAP9):c.10560A>G (p.Gln3520=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 191527	NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val)	AKAP9 (I3558V +2 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 136345	NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val)	AKAP9 (M3614V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 2849981	NM_005751.5(AKAP9):c.10897-10G>T	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GLikely benign
Select item 1094662	NM_005751.5(AKAP9):c.11298G>A (p.Arg3766=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome 11 +4 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 695860	NM_005751.5(AKAP9):c.11364C>T (p.Val3788=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 263701	NM_005751.5(AKAP9):c.11580T>G (p.Gly3860=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3042446	NM_005751.5(AKAP9):c.11686+7dup	AKAP9	Duplication (intron variant)	AKAP9-related disorder	GLikely benign

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Items: 75