"Ambry Genetics"[submitter] AND "LOC130005076"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2411035	NM_022772.4(EPS8L2):c.466G>A (p.Asp156Asn)	EPS8L2, LOC130005076 (D156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276119	NM_022772.4(EPS8L2):c.506G>C (p.Ser169Thr)	EPS8L2, LOC130005076 (S169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320707	NM_022772.4(EPS8L2):c.507C>G (p.Ser169Arg)	EPS8L2, LOC130005076 (S169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387021	NM_022772.4(EPS8L2):c.523C>T (p.Arg175Trp)	EPS8L2, LOC130005076 (R175W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601491	NM_022772.4(EPS8L2):c.540G>A (p.Met180Ile)	EPS8L2, LOC130005076 (M180I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264218	NM_022772.4(EPS8L2):c.549G>T (p.Gln183His)	EPS8L2, LOC130005076 (Q183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491377	NM_022772.4(EPS8L2):c.550A>G (p.Thr184Ala)	EPS8L2, LOC130005076 (T184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar