"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ENTREP2"[g - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2645095	NM_015307.2(ENTREP2):c.1101C>A (p.Ser367=)	ENTREP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645096	NM_138704.4(NSMCE3):c.623A>G (p.Tyr208Cys)	ENTREP2, NSMCE3 (Y208C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672599	GRCh37/hg19 15q13.1-13.3(chr15:29488634-31342785)x1	TJP1, ARHGAP11B +8 more	Copy number loss	not provided	GPathogenic

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