"Ambry Genetics"[submitter] AND "AKAP7"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2595336	NM_016377.4(AKAP7):c.25A>G (p.Ile9Val)	AKAP7 (I9V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2333326	NM_016377.4(AKAP7):c.39G>C (p.Glu13Asp)	AKAP7 (E13D)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3106404	NM_016377.4(AKAP7):c.91A>G (p.Thr31Ala)	AKAP7 (T9A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3106380	NM_016377.4(AKAP7):c.107T>G (p.Val36Gly)	AKAP7 (V14G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278298	NM_016377.4(AKAP7):c.162A>T (p.Glu54Asp)	AKAP7 (E54D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544744	NM_016377.4(AKAP7):c.394G>A (p.Val132Met)	AKAP7 (V110M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287692	NM_016377.4(AKAP7):c.572C>T (p.Ser191Leu)	AKAP7 (S147L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620909	NM_016377.4(AKAP7):c.734A>C (p.Glu245Ala)	AKAP7 (E201A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106398	NM_016377.4(AKAP7):c.768A>G (p.Ile256Met)	AKAP7 (I234M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2588264	NM_016377.4(AKAP7):c.772T>A (p.Tyr258Asn)	AKAP7 (Y236N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489306	NM_016377.4(AKAP7):c.895C>T (p.Leu299Phe)	AKAP7 (L32F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347577	NM_016377.4(AKAP7):c.979G>A (p.Glu327Lys)	AKAP7 (E283K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance