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

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685300	GRCh37/hg19 8p23.1(chr8:9881411-9996705)x1	MSRA	Copy number loss	not provided	GUncertain significance
Select item 2685298	GRCh37/hg19 8p23.1(chr8:9208205-10501320)x1	MIR124-1, MSRA +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB105A, DEFB107B +64 more	Copy number loss	not provided	GPathogenic
Select item 2685281	GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1	DEFB1, DEFB107A +46 more	Copy number loss	not provided	GPathogenic
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 1808721	GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 1808263	GRCh37/hg19 8p23.1(chr8:10014085-10079045)x1	MSRA	Copy number loss	not provided	GUncertain significance
Select item 1807804	GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1	CTSB, DEFB130A +29 more	Copy number loss	not provided	GPathogenic
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1340124	GRCh37/hg19 8p23.1(chr8:9556847-10268805)x3	MIR124-1, MSRA +1 more	Copy number gain	not provided	GUncertain significance
Select item 1339975	GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	not provided	GPathogenic
Select item 815097	GRCh37/hg19 8p23.1(chr8:10087274-10201379)x3	MSRA	Copy number gain	not provided	GUncertain significance
Select item 815096	GRCh37/hg19 8p23.1(chr8:10025860-10561155)x3	PRSS55, RP1L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815095	GRCh37/hg19 8p23.1(chr8:9987099-10120304)x1	MSRA	Copy number loss	not provided	GUncertain significance
Select item 815087	GRCh37/hg19 8p23.1(chr8:8093169-11272546)x1	MIR124-1, MSRA +14 more	Copy number loss	not provided	GPathogenic
Select item 815086	GRCh37/hg19 8p23.1(chr8:8093169-11936001)x1	C8orf74, CLDN23 +23 more	Copy number loss	not provided	GPathogenic
Select item 815085	GRCh37/hg19 8p23.1(chr8:8093065-11881742)x3	NEIL2, PINX1 +23 more	Copy number gain	not provided	GPathogenic
Select item 815083	GRCh37/hg19 8p23.1(chr8:6999219-11895232)x3	DEFB105B, DEFB106A +43 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563551	GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	LONRF1, NEIL2 +76 more	Copy number gain	not provided	GPathogenic
Select item 563550	GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	DEFB105A, USP17L1 +75 more	Copy number gain	not provided	GPathogenic
Select item 563548	GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2	MTMR9, MYOM2 +73 more	Copy number gain	not provided	GPathogenic
Select item 563547	GRCh37/hg19 8p23.3-23.1(chr8:158048-10939681)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 563541	GRCh37/hg19 8p23.1(chr8:6999219-11898980)x3	DEFB105B, DEFB106A +43 more	Copy number gain	not provided	GPathogenic
Select item 563539	GRCh37/hg19 8p23.1(chr8:8093065-11945855)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 563538	GRCh37/hg19 8p23.1(chr8:8093169-11935465)x1	DEFB135, PRSS55 +23 more	Copy number loss	not provided	GPathogenic
Select item 563537	GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1	BLK, C8orf74 +23 more	Copy number loss	not provided	GPathogenic
Select item 563536	GRCh37/hg19 8p23.1(chr8:8119295-11765719)x3	BLK, C8orf74 +20 more	Copy number gain	not provided	GPathogenic
Select item 563505	GRCh37/hg19 8p23.1(chr8:9952770-10603276)x3	MSRA, RP1L1 +4 more	Copy number gain	not provided	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31