"Eurofins Ntd Llc (ga)"[submitter] AND "AKAP9"[gene] - 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)	Long QT syndrome 11 +5 more	GBenign
Select item 264510	NM_005751.5(AKAP9):c.1651A>G (p.Ile551Val)	AKAP9 (I551V)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely 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 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 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 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 136331	NM_005751.5(AKAP9):c.5163-20G>A	AKAP9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 191518	NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)	AKAP9 (E2013K +1 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +5 more	GConflicting classifications of pathogenicity
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 191522	NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)	AKAP9 (K2762N +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 197505	NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=)	AKAP9	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity