"Ambry Genetics"[submitter] AND "DERL2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2285055	NM_016041.5(DERL2):c.685T>C (p.Phe229Leu)	DERL2 (F229L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2477814	NM_016041.5(DERL2):c.671A>G (p.Glu224Gly)	DERL2 (E224G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294561	NM_016041.5(DERL2):c.641A>C (p.Glu214Ala)	DERL2 (E214A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081786	NM_016041.5(DERL2):c.572A>G (p.Asn191Ser)	DERL2 (N191S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302591	NM_016041.5(DERL2):c.326C>T (p.Thr109Ile)	DERL2 (T108I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081785	NM_016041.5(DERL2):c.22C>A (p.Leu8Met)	DERL2 (L8M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081784	NM_016041.5(DERL2):c.14G>T (p.Ser5Ile)	DERL2 (S5I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar