"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "DPYSL2"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2658495	NM_001197293.3(DPYSL2):c.588A>G (p.Gln196=)	DPYSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718924	NM_001197293.3(DPYSL2):c.792C>T (p.His264=)	DPYSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658496	NM_001197293.3(DPYSL2):c.1612A>G (p.Ile538Val)	DPYSL2 (I397V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658497	NM_001197293.3(DPYSL2):c.1725C>G (p.Pro575=)	DPYSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic

ClinVar