"Ambry Genetics"[submitter] AND "AKAP9"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 519248	NM_005751.5(AKAP9):c.9C>T (p.Asp3=)	AKAP9, LOC129998788	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1792119	NM_005751.5(AKAP9):c.10G>C (p.Glu4Gln)	AKAP9, LOC129998788 (E4Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1780369	NM_005751.5(AKAP9):c.17G>A (p.Arg6Lys)	AKAP9, LOC129998788 (R6K)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1785872	NM_005751.5(AKAP9):c.20A>C (p.Gln7Pro)	AKAP9, LOC129998788 (Q7P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1792220	NM_005751.5(AKAP9):c.24G>A (p.Lys8=)	AKAP9, LOC129998788	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2472002	NM_005751.5(AKAP9):c.25A>C (p.Lys9Gln)	AKAP9, LOC129998788 (K9Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 526996	NM_005751.5(AKAP9):c.34G>A (p.Ala12Thr)	AKAP9, LOC129998788 (A12T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 518853	NM_005751.5(AKAP9):c.36C>T (p.Ala12=)	AKAP9, LOC129998788	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1735049	NM_005751.5(AKAP9):c.37G>A (p.Gly13Ser)	AKAP9, LOC129998788 (G13S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1413812	NM_005751.5(AKAP9):c.39C>T (p.Gly13=)	LOC129998788, AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
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 1744269	NM_005751.5(AKAP9):c.49-3T>C	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1299922	NM_005751.5(AKAP9):c.54C>A (p.Ala18=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1758174	NM_005751.5(AKAP9):c.72A>G (p.Lys24=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1760671	NM_005751.5(AKAP9):c.77A>C (p.Gln26Pro)	AKAP9 (Q26P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449756	NM_005751.5(AKAP9):c.80C>G (p.Ser27Trp)	AKAP9 (S27W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 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 1766858	NM_005751.5(AKAP9):c.93T>G (p.Ser31Arg)	AKAP9 (S31R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225011	NM_005751.5(AKAP9):c.116dup (p.Arg40fs)	AKAP9 (R40fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 190516	NM_005751.5(AKAP9):c.109A>G (p.Lys37Glu)	AKAP9 (K37E)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 190499	NM_005751.5(AKAP9):c.119G>A (p.Arg40Lys)	AKAP9 (R40K)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3225015	NM_005751.5(AKAP9):c.125C>T (p.Thr42Met)	AKAP9 (T42M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 518785	NM_005751.5(AKAP9):c.126G>A (p.Thr42=)	AKAP9	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3225016	NM_005751.5(AKAP9):c.128C>T (p.Ser43Leu)	AKAP9 (S43L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1771244	NM_005751.5(AKAP9):c.137A>G (p.Lys46Arg)	AKAP9 (K46R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 191549	NM_005751.5(AKAP9):c.139C>T (p.His47Tyr)	AKAP9 (H47Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 2564447	NM_005751.5(AKAP9):c.141_143delinsCGG (p.Asp48Gly)	AKAP9 (D48G)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2564446	NM_005751.5(AKAP9):c.141T>C (p.His47=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2564448	NM_005751.5(AKAP9):c.143A>G (p.Asp48Gly)	AKAP9 (D48G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1773335	NM_005751.5(AKAP9):c.146T>A (p.Val49Glu)	AKAP9 (V49E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 360813	NM_005751.5(AKAP9):c.158A>G (p.His53Arg)	AKAP9 (H53R)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 859009	NM_005751.5(AKAP9):c.177A>G (p.Gln59=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1780331	NM_005751.5(AKAP9):c.179C>T (p.Ser60Leu)	AKAP9 (S60L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1781126	NM_005751.5(AKAP9):c.183G>A (p.Gln61=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1783938	NM_005751.5(AKAP9):c.198C>T (p.Tyr66=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1785854	NM_005751.5(AKAP9):c.209C>A (p.Ser70Tyr)	AKAP9 (S70Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1786877	NM_005751.5(AKAP9):c.215G>C (p.Arg72Thr)	AKAP9 (R72T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 844374	NM_005751.5(AKAP9):c.217G>T (p.Val73Leu)	AKAP9 (V73L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1787542	NM_005751.5(AKAP9):c.219A>G (p.Val73=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1788569	NM_005751.5(AKAP9):c.225A>G (p.Ser75=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 190500	NM_005751.5(AKAP9):c.235C>T (p.Pro79Ser)	AKAP9 (P79S)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3225028	NM_005751.5(AKAP9):c.245C>G (p.Thr82Arg)	AKAP9 (T82R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1163282	NM_005751.5(AKAP9):c.257C>G (p.Thr86Ser)	AKAP9 (T86S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 2564454	NM_005751.5(AKAP9):c.268G>A (p.Gly90Arg)	AKAP9 (G90R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225032	NM_005751.5(AKAP9):c.284A>G (p.His95Arg)	AKAP9 (H95R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 190501	NM_005751.5(AKAP9):c.288G>T (p.Glu96Asp)	AKAP9 (E96D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 190502	NM_005751.5(AKAP9):c.289C>G (p.Gln97Glu)	AKAP9 (Q97E)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1797795	NM_005751.5(AKAP9):c.292G>A (p.Gly98Ser)	AKAP9 (G98S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1799365	NM_005751.5(AKAP9):c.306+4_306+7del	AKAP9	Microsatellite (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 1727311	NM_005751.5(AKAP9):c.307-5T>G	AKAP9	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1727295	NM_005751.5(AKAP9):c.307-4T>C	AKAP9	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3106822	NM_005751.5(AKAP9):c.314G>A (p.Ser105Asn)	AKAP9 (S105N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1729502	NM_005751.5(AKAP9):c.325A>G (p.Thr109Ala)	AKAP9 (T109A)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1641659	NM_005751.5(AKAP9):c.339C>T (p.Asp113=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2564480	NM_005751.5(AKAP9):c.343A>G (p.Ser115Gly)	AKAP9 (S115G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225045	NM_005751.5(AKAP9):c.356A>G (p.Asn119Ser)	AKAP9 (N119S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1734452	NM_005751.5(AKAP9):c.373A>G (p.Met125Val)	AKAP9 (M125V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1734842	NM_005751.5(AKAP9):c.377G>A (p.Arg126Lys)	AKAP9 (R126K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3225053	NM_005751.5(AKAP9):c.378A>G (p.Arg126=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1735130	NM_005751.5(AKAP9):c.380C>G (p.Thr127Arg)	AKAP9 (T127R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 519321	NM_005751.5(AKAP9):c.384A>G (p.Gly128=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1736173	NM_005751.5(AKAP9):c.391A>G (p.Thr131Ala)	AKAP9 (T131A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1402253	NM_005751.5(AKAP9):c.392C>T (p.Thr131Ile)	AKAP9 (T131I)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1423148	NM_005751.5(AKAP9):c.394A>C (p.Asn132His)	AKAP9 (N132H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 578497	NM_005751.5(AKAP9):c.394A>G (p.Asn132Asp)	AKAP9 (N132D)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 3225056	NM_005751.5(AKAP9):c.405+1G>A	AKAP9	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737503	NM_005751.5(AKAP9):c.406-5T>C	AKAP9	Single nucleotide variant (intron variant)	Cardiovascular phenotype	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 836385	NM_005751.5(AKAP9):c.419G>A (p.Gly140Asp)	AKAP9 (G140D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 412020	NM_005751.5(AKAP9):c.431C>G (p.Ser144Cys)	AKAP9 (S144C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1585878	NM_005751.5(AKAP9):c.438T>C (p.Ser146=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 457102	NM_005751.5(AKAP9):c.441A>T (p.Glu147Asp)	AKAP9 (E147D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1740530	NM_005751.5(AKAP9):c.442C>G (p.Gln148Glu)	AKAP9 (Q148E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449782	NM_005751.5(AKAP9):c.444A>C (p.Gln148His)	AKAP9 (Q148H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 412017	NM_005751.5(AKAP9):c.456C>A (p.Asp152Glu)	AKAP9 (D152E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1493135	NM_005751.5(AKAP9):c.461C>T (p.Pro154Leu)	AKAP9 (P154L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2740775	NM_005751.5(AKAP9):c.462G>A (p.Pro154=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1742030	NM_005751.5(AKAP9):c.462G>T (p.Pro154=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 1743260	NM_005751.5(AKAP9):c.480G>A (p.Met160Ile)	AKAP9 (M160I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1743467	NM_005751.5(AKAP9):c.483A>G (p.Glu161=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 457105	NM_005751.5(AKAP9):c.485G>C (p.Ser162Thr)	AKAP9 (S162T)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 518725	NM_005751.5(AKAP9):c.492G>A (p.Leu164=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1053998	NM_005751.5(AKAP9):c.506A>G (p.His169Arg)	AKAP9 (H169R)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 571586	NM_005751.5(AKAP9):c.509A>T (p.Glu170Val)	AKAP9 (E170V)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 190518	NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)	AKAP9 (E170D)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 1745543	NM_005751.5(AKAP9):c.512T>C (p.Ile171Thr)	AKAP9 (I171T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1972992	NM_005751.5(AKAP9):c.547del (p.Val183fs)	AKAP9 (V183fs)	Deletion (frameshift variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1373696	NM_005751.5(AKAP9):c.546G>T (p.Arg182Ser)	AKAP9 (R182S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3225070	NM_005751.5(AKAP9):c.554A>G (p.Tyr185Cys)	AKAP9 (Y185C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 2609794	NM_005751.5(AKAP9):c.575A>G (p.Gln192Arg)	AKAP9 (Q192R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1749482	NM_005751.5(AKAP9):c.576+5G>A	AKAP9	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1749571	NM_005751.5(AKAP9):c.577-4T>G	AKAP9	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 2626296	NM_005751.5(AKAP9):c.587T>C (p.Phe196Ser)	AKAP9 (F196S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1750875	NM_005751.5(AKAP9):c.598A>G (p.Ile200Val)	AKAP9 (I200V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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

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