Related gene-specific medical variations for Gene (Select 125138301) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3105357	NM_007200.5(AKAP13):c.3542A>G (p.Asp1181Gly)	AKAP13, LOC125138301 (D1181G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105352	NM_007200.5(AKAP13):c.3505T>C (p.Cys1169Arg)	AKAP13, LOC125138301 (C1169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469970	NM_007200.5(AKAP13):c.3533A>G (p.Gln1178Arg)	AKAP13, LOC125138301 (Q1178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456804	NM_007200.5(AKAP13):c.3466G>A (p.Asp1156Asn)	AKAP13, LOC125138301 (D1156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210050	NM_007200.5(AKAP13):c.3459A>G (p.Ile1153Met)	AKAP13, LOC125138301 (I1153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778102	NM_007200.5(AKAP13):c.3525G>A (p.Glu1175=)	AKAP13, LOC125138301	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign

ClinVar