"Ambry Genetics"[submitter] AND "LOC130066369"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2529328	NM_001037335.2(HELZ2):c.1541G>A (p.Arg514His)	HELZ2, LOC130066369 (R514H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604111	NM_001037335.2(HELZ2):c.1538G>T (p.Arg513Leu)	HELZ2, LOC130066369 (R513L)	Single nucleotide variant (missense variant)	not specified	GLikely benign