Related gene-specific medical variations for Gene (Select 26993) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281232	NM_014371.4(AKAP8L):c.1930G>A (p.Gly644Ser)	AKAP8L, LOC112543462 (G583S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106634	NM_014371.4(AKAP8L):c.1814C>T (p.Pro605Leu)	AKAP8L, LOC112543462 (P544L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106620	NM_014371.4(AKAP8L):c.1610A>G (p.Lys537Arg)	AKAP8L, LOC112543462 (K476R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106615	NM_014371.4(AKAP8L):c.1556A>G (p.Lys519Arg)	AKAP8L, LOC112543462 (K458R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524475	NM_014371.4(AKAP8L):c.1690G>A (p.Gly564Ser)	AKAP8L, LOC112543462 (G503S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381524	NM_014371.4(AKAP8L):c.1676A>C (p.Gln559Pro)	AKAP8L, LOC112543462 (Q559P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337122	NM_014371.4(AKAP8L):c.1792G>C (p.Gly598Arg)	AKAP8L, LOC112543462 (G537R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326042	NM_014371.4(AKAP8L):c.1600C>T (p.Leu534Phe)	AKAP8L, LOC112543462 (L473F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213516	NM_014371.4(AKAP8L):c.1882C>T (p.Arg628Cys)	AKAP8L, LOC112543462 (R628C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 748531	NM_014371.4(AKAP8L):c.1899C>G (p.Leu633=)	AKAP8L, LOC112543462	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign