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

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Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685552	GRCh37/hg19 16p13.3(chr16:6981577-7447342)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 2685551	GRCh37/hg19 16p13.3(chr16:6704526-6844992)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 2685550	GRCh37/hg19 16p13.3(chr16:6642111-6706037)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 2685549	GRCh37/hg19 16p13.3(chr16:6260839-6978977)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1807608	GRCh37/hg19 16p13.3(chr16:7575427-7875997)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 1340566	GRCh37/hg19 16p13.3(chr16:7176252-7260573)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 980675	GRCh37/hg19 16p13.3(chr16:6206772-6601179)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 980674	GRCh37/hg19 16p13.3(chr16:7063678-7234292)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 980581	GRCh37/hg19 16p13.3(chr16:7242048-7576771)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 980580	GRCh37/hg19 16p13.3(chr16:6882364-7247060)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 980579	GRCh37/hg19 16p13.3(chr16:6693473-6874647)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 980578	GRCh37/hg19 16p13.3(chr16:6749404-7146098)x3	RBFOX1	Copy number gain	not provided	GUncertain significance
Select item 980577	GRCh37/hg19 16p13.3(chr16:6750079-7122910)x3	RBFOX1	Copy number gain	not provided	GUncertain significance
Select item 980575	GRCh37/hg19 16p13.3(chr16:6531393-6839555)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 815783	GRCh37/hg19 16p13.3(chr16:7733702-7786380)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 815782	GRCh37/hg19 16p13.3(chr16:7629320-7682605)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 815781	GRCh37/hg19 16p13.3(chr16:7575426-7875997)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 815780	GRCh37/hg19 16p13.3(chr16:6761164-7052376)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 815779	GRCh37/hg19 16p13.3(chr16:6694237-6998141)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 815778	GRCh37/hg19 16p13.3(chr16:6238958-6612574)x3	RBFOX1	Copy number gain	not provided	GUncertain significance
Select item 815777	GRCh37/hg19 16p13.3(chr16:5951840-6730577)x3	RBFOX1	Copy number gain	not provided	GUncertain significance
Select item 815776	GRCh37/hg19 16p13.3(chr16:5670062-6894606)x3	RBFOX1	Copy number gain	not provided	GUncertain significance
Select item 564267	GRCh37/hg19 16p13.3(chr16:6958175-7441851)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 564266	GRCh37/hg19 16p13.3(chr16:6927469-7227122)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 564265	GRCh37/hg19 16p13.3(chr16:6294808-6394422)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 564264	GRCh37/hg19 16p13.3(chr16:6236905-6443743)x1	RBFOX1	Copy number loss	not provided	GUncertain significance
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic

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Items: 28