"Baylor Genetics"[submitter] AND "ENTREP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034263	NM_138704.4(NSMCE3):c.586A>G (p.Thr196Ala)	ENTREP2, NSMCE3 (T196A)	Single nucleotide variant (missense variant +1 more)	Lung disease, immunodeficiency, and chromosome breakage syndrome; +1 more	GUncertain significance
Select item 625719	GRCh37/hg19 15q13.1-13.3(chr15:29276878-32404084)	APBA2, ARHGAP11B +13 more	Copy number loss	not provided	GPathogenic
Select item 625714	GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689)	APBA2, ARHGAP11A +47 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625712	GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)	APBA2, ARHGAP11B +44 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625711	GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)	APBA2, ARHGAP11A +50 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 625709	GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265)	IPW, GABRG3 +37 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic

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