C2678483[trait identifier] AND "Genome Diagnostics Laboratory, Univers - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 191549	NM_005751.5(AKAP9):c.139C>T (p.His47Tyr)	AKAP9 (H47Y)	Single nucleotide variant (missense variant)	Long QT syndrome +9 more	GBenign/Likely benign
Select item 190518	NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)	AKAP9 (E170D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 191551	NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro)	AKAP9 (A458P)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GBenign/Likely benign
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 1035224	NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys)	AKAP9 (E1265K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 136332	NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr)	AKAP9 (I1749T)	Single nucleotide variant (missense variant)	unspecified heart condition +5 more	GBenign/Likely benign
Select item 522189	NM_005751.5(AKAP9):c.5565A>G (p.Glu1855=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 220501	NM_005751.5(AKAP9):c.5978-4A>G	AKAP9	Single nucleotide variant (intron variant)	not provided +5 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 +5 more	GConflicting classifications of pathogenicity
Select item 191519	NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly)	AKAP9 (E2059G +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 215513	NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=)	AKAP9	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 191520	NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro)	AKAP9 (S2186P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 136337	NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=)	AKAP9	Single nucleotide variant (synonymous variant)	Long QT syndrome +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)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1284664	NM_005751.5(AKAP9):c.9358+11T>C	AKAP9	Single nucleotide variant (intron variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 190510	NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr)	AKAP9 (S3373Y +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 190512	NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His)	AKAP9 (Q3418H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 190514	NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val)	AKAP9 (D3555V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +5 more	GConflicting classifications of pathogenicity
Select item 136345	NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val)	AKAP9, CYP51A1 (M3614V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GBenign/Likely benign

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Items: 20