"GeneDx"[submitter] AND "AKAP9"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152396	GRCh38/hg38 7q21.2(chr7:91929250-92018542)x3	AKAP9, LOC129998788 +1 more	Copy number gain	See cases	GUncertain significance
Select item 1264811	NC_000007.14:g.91940581dup	AKAP9	Duplication	not provided	GBenign
Select item 683171	NM_005751.4(AKAP9):c.-285C>T	AKAP9	Single nucleotide variant	not provided	GBenign
Select item 1278318	NM_005751.5(AKAP9):c.-230G>T	AKAP9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 360806	NM_005751.5(AKAP9):c.-214CGG[6]	AKAP9	Microsatellite (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1223257	NM_005751.5(AKAP9):c.-129G>A	AKAP9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 672176	NM_005751.5(AKAP9):c.48+154C>A	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276977	NM_005751.5(AKAP9):c.49-3200A>C	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271073	NM_005751.5(AKAP9):c.49-3200A>G	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675573	NM_005751.5(AKAP9):c.49-21G>A	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
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 190516	NM_005751.5(AKAP9):c.109A>G (p.Lys37Glu)	AKAP9 (K37E)	Single nucleotide variant (missense variant)	not provided +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 518785	NM_005751.5(AKAP9):c.126G>A (p.Thr42=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely 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 360813	NM_005751.5(AKAP9):c.158A>G (p.His53Arg)	AKAP9 (H53R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 190501	NM_005751.5(AKAP9):c.288G>T (p.Glu96Asp)	AKAP9 (E96D)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GLikely benign
Select item 190502	NM_005751.5(AKAP9):c.289C>G (p.Gln97Glu)	AKAP9 (Q97E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 675390	NM_005751.5(AKAP9):c.306+63T>G	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182783	NM_005751.5(AKAP9):c.352-206A>T	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288614	NM_005751.5(AKAP9):c.352-155A>G	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307402	NM_005751.5(AKAP9):c.352-1G>A	AKAP9	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1297240	NM_005751.5(AKAP9):c.406-224C>A	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288530	NM_005751.5(AKAP9):c.406-201_406-200dup	AKAP9	Duplication (intron variant)	not provided	GBenign
Select item 1264595	NM_005751.5(AKAP9):c.406-200dup	AKAP9	Duplication (intron variant)	not provided	GBenign
Select item 1241138	NM_005751.5(AKAP9):c.406-207_406-206insC	AKAP9	Insertion (intron variant)	not provided	GBenign
Select item 1207886	NM_005751.5(AKAP9):c.406-207A>C	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely 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 190518	NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)	AKAP9 (E170D)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +7 more	GConflicting classifications of pathogenicity
Select item 970739	NM_005751.5(AKAP9):c.576+5G>T	AKAP9	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1185892	NM_005751.5(AKAP9):c.576+34C>T	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192887	NM_005751.5(AKAP9):c.576+122TTC[5]	AKAP9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 682737	NM_005751.5(AKAP9):c.576+307G>A	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504548	NM_005751.5(AKAP9):c.643CAA[1] (p.Gln216del)	AKAP9 (Q216del)	Microsatellite (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1204759	NM_005751.5(AKAP9):c.733-27C>T	AKAP9, LOC129998789	Single nucleotide variant (intron variant)	not provided	GLikely 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 1183663	NM_005751.5(AKAP9):c.930+177G>A	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671862	NM_005751.5(AKAP9):c.931-178T>G	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192847	NM_005751.5(AKAP9):c.931-168T>A	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671863	NM_005751.5(AKAP9):c.931-161G>C	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
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 1180225	NM_005751.5(AKAP9):c.1074A>T (p.Leu358Phe)	AKAP9 (L358F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180260	NM_005751.5(AKAP9):c.1099G>A (p.Val367Met)	AKAP9 (V367M)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GLikely benign
Select item 190503	NM_005751.5(AKAP9):c.1158A>T (p.Lys386Asn)	AKAP9 (K386N)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 190504	NM_005751.5(AKAP9):c.1223A>G (p.Asn408Ser)	AKAP9 (N408S)	Single nucleotide variant (missense variant)	not specified	GLikely 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 190505	NM_005751.5(AKAP9):c.1538A>G (p.Lys513Arg)	AKAP9 (K513R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 190507	NM_005751.5(AKAP9):c.2477T>C (p.Ile826Thr)	AKAP9 (I826T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 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 3368795	NM_005751.5(AKAP9):c.3176T>G (p.Met1059Arg)	AKAP9 (M1059R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 675391	NM_005751.5(AKAP9):c.3319-214A>C	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203377	NM_005751.5(AKAP9):c.3319-29T>C	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely 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 671864	NM_005751.5(AKAP9):c.3533-161G>T	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287773	NM_005751.5(AKAP9):c.3533-148T>C	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675309	NM_005751.5(AKAP9):c.3533-141C>G	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235991	NM_005751.5(AKAP9):c.3612+51T>C	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183064	NM_005751.5(AKAP9):c.3612+116G>A	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682744	NM_005751.5(AKAP9):c.3613-291G>C	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671865	NM_005751.5(AKAP9):c.3613-178A>G	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221995	NM_005751.5(AKAP9):c.3672A>G (p.Ala1224=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 1242833	NM_005751.5(AKAP9):c.3751+212G>T	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671629	NM_005751.5(AKAP9):c.3751+312T>C	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671866	NM_005751.5(AKAP9):c.3752-133C>T	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674327	NM_005751.5(AKAP9):c.3752-128A>G	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely 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 1178986	NM_005751.5(AKAP9):c.3838-169T>A	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191791	NM_005751.5(AKAP9):c.3838-164G>A	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187236	NM_005751.5(AKAP9):c.3952+49G>T	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674483	NM_005751.5(AKAP9):c.3952+107C>T	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181643	NM_005751.5(AKAP9):c.4005dup (p.Leu1336fs)	AKAP9 (L1336fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 1238243	NM_005751.5(AKAP9):c.4003_4004insC (p.Lys1335fs)	AKAP9 (K1335fs)	Insertion (frameshift variant)	not provided	GBenign
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 1302767	NM_005751.5(AKAP9):c.4005_4006insACA (p.Lys1335_Leu1336insThr)	AKAP9	Insertion (inframe_insertion)	not provided	GBenign
Select item 1244970	NM_005751.5(AKAP9):c.4004_4005insC (p.Lys1335fs)	AKAP9 (K1335fs)	Insertion (frameshift variant)	not provided	GBenign
Select item 190509	NM_005751.5(AKAP9):c.4127G>C (p.Ser1376Thr)	AKAP9 (S1376T)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely 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 669906	NM_005751.5(AKAP9):c.4149-261A>G	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely 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 1253656	NM_005751.5(AKAP9):c.4245+216T>C	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 527098	NM_005751.5(AKAP9):c.4246-6A>T	AKAP9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 671868	NM_005751.5(AKAP9):c.4338+193G>C	AKAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195490	NM_005751.5(AKAP9):c.4338+207C>T	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675270	NM_005751.5(AKAP9):c.4339-156C>T	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely 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 264112	NM_005751.5(AKAP9):c.4360G>A (p.Ala1454Thr)	AKAP9 (A1454T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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