C2678483[trait identifier] AND "Diagnostic Laboratory, Department of G - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 136331	NM_005751.5(AKAP9):c.5163-20G>A	AKAP9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 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 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 1284691	NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys)	AKAP9 (T1131K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
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 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 136344	NM_005751.5(AKAP9):c.10426A>C (p.Arg3476=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign/Likely benign