"Ambry Genetics"[submitter] AND "LOC126861749"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2606217	NM_016248.4(AKAP11):c.406C>G (p.Leu136Val)	AKAP11, LOC126861749 (L136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556671	NM_016248.4(AKAP11):c.497T>C (p.Leu166Pro)	AKAP11, LOC126861749 (L166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104873	NM_016248.4(AKAP11):c.581T>C (p.Leu194Ser)	AKAP11, LOC126861749 (L194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104878	NM_016248.4(AKAP11):c.589G>C (p.Glu197Gln)	AKAP11, LOC126861749 (E197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104880	NM_016248.4(AKAP11):c.611A>T (p.Asn204Ile)	AKAP11, LOC126861749 (N204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364323	NM_016248.4(AKAP11):c.667G>T (p.Val223Phe)	AKAP11, LOC126861749 (V223F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614902	NM_016248.4(AKAP11):c.773A>G (p.His258Arg)	AKAP11, LOC126861749 (H258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406096	NM_016248.4(AKAP11):c.826T>C (p.Trp276Arg)	AKAP11, LOC126861749 (W276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104889	NM_016248.4(AKAP11):c.836G>T (p.Arg279Met)	AKAP11, LOC126861749 (R279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance