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

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808217	GRCh37/hg19 6p22.3(chr6:24545307-24611097)x1	KIAA0319	Copy number loss	not provided	GUncertain significance
Select item 814803	GRCh37/hg19 6p22.3(chr6:24497678-25168510)x3	TDP2, ACOT13 +5 more	Copy number gain	not provided	GUncertain significance

Format

Sort by

Choose Destination