"Ambry Genetics"[submitter] AND "AKAP4"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2376453	NM_003886.3(AKAP4):c.2542G>A (p.Asp848Asn)	AKAP4 (D839N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469493	NM_003886.3(AKAP4):c.2312A>C (p.Gln771Pro)	AKAP4 (Q762P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105994	NM_003886.3(AKAP4):c.2204A>C (p.Asn735Thr)	AKAP4 (N735T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105988	NM_003886.3(AKAP4):c.2191G>C (p.Ala731Pro)	AKAP4 (A722P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105983	NM_003886.3(AKAP4):c.2145C>A (p.Ser715Arg)	AKAP4 (S706R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227213	NM_003886.3(AKAP4):c.2093A>G (p.Asp698Gly)	AKAP4 (D698G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105974	NM_003886.3(AKAP4):c.1898T>G (p.Leu633Arg)	AKAP4 (L624R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280797	NM_003886.3(AKAP4):c.1869A>T (p.Lys623Asn)	AKAP4 (K623N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105970	NM_003886.3(AKAP4):c.1841A>G (p.Lys614Arg)	AKAP4 (K614R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300428	NM_003886.3(AKAP4):c.1792G>A (p.Val598Met)	AKAP4 (V589M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599075	NM_003886.3(AKAP4):c.1778C>T (p.Ala593Val)	AKAP4 (A593V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530261	NM_003886.3(AKAP4):c.1286G>A (p.Arg429His)	AKAP4 (R429H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3105950	NM_003886.3(AKAP4):c.1268T>C (p.Met423Thr)	AKAP4 (M423T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105939	NM_003886.3(AKAP4):c.1167C>A (p.Asn389Lys)	AKAP4 (N380K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105934	NM_003886.3(AKAP4):c.1157G>T (p.Cys386Phe)	AKAP4 (C386F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530029	NM_003886.3(AKAP4):c.913G>A (p.Glu305Lys)	AKAP4 (E305K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408181	NM_003886.3(AKAP4):c.809T>C (p.Ile270Thr)	AKAP4 (I270T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330250	NM_003886.3(AKAP4):c.802A>G (p.Ser268Gly)	AKAP4 (S259G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228945	NM_003886.3(AKAP4):c.800C>T (p.Ala267Val)	AKAP4 (A267V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265731	NM_003886.3(AKAP4):c.781A>C (p.Ile261Leu)	AKAP4 (I252L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315812	NM_003886.3(AKAP4):c.595C>T (p.Pro199Ser)	AKAP4 (P190S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106019	NM_003886.3(AKAP4):c.593C>T (p.Pro198Leu)	AKAP4 (P198L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242038	NM_003886.3(AKAP4):c.550A>G (p.Asn184Asp)	AKAP4 (N184D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374684	NM_003886.3(AKAP4):c.302A>G (p.Lys101Arg)	AKAP4 (K92R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342759	NM_003886.3(AKAP4):c.280G>C (p.Glu94Gln)	AKAP4 (E85Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481962	NM_003886.3(AKAP4):c.239T>A (p.Ile80Asn)	AKAP4 (I71N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410888	NM_003886.3(AKAP4):c.172A>G (p.Lys58Glu)	AKAP4 (K58E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408229	NM_003886.3(AKAP4):c.140T>G (p.Val47Gly)	AKAP4 (V38G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242037	NM_003886.3(AKAP4):c.140T>C (p.Val47Ala)	AKAP4 (V38A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105945	NM_003886.3(AKAP4):c.116G>A (p.Arg39Gln)	AKAP4 (R30Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105956	NM_003886.3(AKAP4):c.13T>A (p.Ser5Thr)	AKAP4 (S5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 31