"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685640	GRCh37/hg19 20p12.3(chr20:7106058-8573589)x1	HAO1, PLCB1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684902	GRCh37/hg19 20p12.3-12.2(chr20:8695257-9285462)x3	PLCB1, PLCB4	Copy number gain	not provided	GUncertain significance
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 1808528	GRCh37/hg19 20p12.3(chr20:7106058-8586513)x3	HAO1, PLCB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808071	GRCh37/hg19 20p12.3(chr20:7548252-8315350)x4	HAO1, PLCB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807657	GRCh37/hg19 20p12.3-12.2(chr20:8725348-9399410)x3	PLCB1, PLCB4	Copy number gain	not provided	GUncertain significance
Select item 1341039	GRCh37/hg19 20p12.3(chr20:7036007-8138271)x3	HAO1, PLCB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 979572	GRCh37/hg19 20p12.3-12.2(chr20:8725347-9399410)x3	PLCB1, PLCB4	Copy number gain	not provided	GUncertain significance
Select item 979571	GRCh37/hg19 20p12.3(chr20:8175139-8331120)x1	PLCB1	Copy number loss	not provided	GUncertain significance
Select item 816115	GRCh37/hg19 20p12.3-12.2(chr20:8729409-9277835)x3	PLCB1, PLCB4	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816113	GRCh37/hg19 20p12.3(chr20:8140411-8258600)x1	PLCB1	Copy number loss	not provided	GUncertain significance
Select item 816111	GRCh37/hg19 20p12.3(chr20:7052456-8140338)x3	TMX4, PLCB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564644	GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3	BTBD3, TMX4 +18 more	Copy number gain	not provided	GPathogenic
Select item 564641	GRCh37/hg19 20p12.3(chr20:7092359-8586513)x3	HAO1, PLCB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564640	GRCh37/hg19 20p12.3(chr20:7716643-9158286)x1	PLCB1, TMX4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 564628	GRCh37/hg19 20p12.3(chr20:8089954-8586513)x1	PLCB1	Copy number loss	not provided	GUncertain significance
Select item 564618	GRCh37/hg19 20p12.3(chr20:8720438-8943614)x3	PLCB1	Copy number gain	not provided	GUncertain significance

ClinVar

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Items: 20