"ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laborato - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062637	GRCh37/hg19 2q22.3-23.1(chr2:148646132-148829749)x1	ACVR2A, MBD5 +1 more	Copy number loss	not specified	GPathogenic
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062605	GRCh37/hg19 2q23.1(chr2:148901160-148979973)x1	MBD5	Copy number loss	not specified	GPathogenic
Select item 1526920	GRCh37/hg19 2q23.1-23.2(chr2:149218583-149933863)	EPC2, LYPD6B +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526919	GRCh37/hg19 2q23.1(chr2:149201266-149239392)	MBD5	Copy number gain	not specified	GPathogenic
Select item 1526918	GRCh37/hg19 2q23.1(chr2:149123669-149665709)	EPC2, MBD5	Copy number gain	not specified	GUncertain significance
Select item 1526917	GRCh37/hg19 2q23.1-23.3(chr2:148954840-150800195)	EPC2, LYPD6 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1526916	GRCh37/hg19 2q23.1(chr2:148897424-148979973)	MBD5	Copy number loss	not specified	GPathogenic
Select item 1526914	GRCh37/hg19 2q23.1(chr2:148894900-148979973)	MBD5	Copy number loss	not specified	GPathogenic
Select item 1526913	GRCh37/hg19 2q23.1(chr2:148746282-149079105)	MBD5, ORC4	Copy number loss	not specified	GPathogenic
Select item 1526912	GRCh37/hg19 2q23.1(chr2:148728409-149130479)	MBD5, ORC4	Copy number loss	not specified	GPathogenic
Select item 1526911	GRCh37/hg19 2q23.1(chr2:148728326-148851964)	MBD5, ORC4	Copy number loss	not specified	GPathogenic
Select item 1526910	GRCh37/hg19 2q22.3-23.1(chr2:148698523-148900148)	MBD5, ORC4	Copy number loss	not specified	GPathogenic
Select item 1526908	GRCh37/hg19 2q22.3-23.1(chr2:146803587-149568729)	ACVR2A, EPC2 +2 more	Copy number loss	not specified	GPathogenic
Select item 1526906	GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)	ACVR2A, ARHGAP15 +17 more	Copy number loss	not specified	GPathogenic