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

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2684463	GRCh37/hg19 6q27(chr6:167047570-167576975)x3	CCR6, CEP43 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1340871	GRCh37/hg19 6q27(chr6:167263995-167774832)x3	CCR6, CEP43 +5 more	Copy number gain	not provided	GUncertain significance
Select item 979597	GRCh37/hg19 6q27(chr6:166083476-170919482)x3	AFDN, C6orf120 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 979596	GRCh37/hg19 6q27(chr6:167220089-167305288)x1	RPS6KA2	Copy number loss	not provided	GLikely benign
Select item 814904	GRCh37/hg19 6q27(chr6:166827923-167156755)x3	RPS6KA2	Copy number gain	not provided	GUncertain significance
Select item 814901	GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 814897	GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1	GPR31, KIF25 +33 more	Copy number loss	not provided	GPathogenic
Select item 563257	GRCh37/hg19 6q27(chr6:167167381-167433823)x1	CEP43, RPS6KA2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563256	GRCh37/hg19 6q27(chr6:166686874-166891466)x3	RPS6KA2, MPC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563255	GRCh37/hg19 6q27(chr6:165190527-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	not provided	GPathogenic
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic