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

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Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685894	GRCh37/hg19 3p26.3(chr3:285806-1510822)x3	CHL1, CNTN6	Copy number gain	not provided	GUncertain significance
Select item 2685893	GRCh37/hg19 3p26.3(chr3:255826-467157)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 2685892	GRCh37/hg19 3p26.3(chr3:61892-399110)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 2685030	GRCh37/hg19 3p26.3(chr3:319826-979343)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 2685019	GRCh37/hg19 3p26.3-26.1(chr3:61892-6743581)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1808804	GRCh37/hg19 3p26.3-26.2(chr3:61892-3459560)x1	CHL1, CNTN4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807781	GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1	ARL8B, BHLHE40 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807765	GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1	ARL8B, ARPC4 +33 more	Copy number loss	not provided	GPathogenic
Select item 1341225	GRCh37/hg19 3p26.3(chr3:285805-317854)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 1340260	GRCh37/hg19 3p26.3(chr3:61892-353163)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 1340181	GRCh37/hg19 3p26.3(chr3:430682-730529)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 979435	GRCh37/hg19 3p26.3(chr3:319825-1079859)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 979430	GRCh37/hg19 3p26.3(chr3:61891-285783)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 979428	GRCh37/hg19 3p26.3(chr3:317853-979343)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 979424	GRCh37/hg19 3p26.3(chr3:115780-298012)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 979421	GRCh37/hg19 3p26.3(chr3:234923-473605)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 979418	GRCh37/hg19 3p26.3(chr3:353990-730529)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 816605	GRCh37/hg19 3p26.3(chr3:79966-295418)x4	CHL1	Copy number gain	not provided	GUncertain significance
Select item 816604	GRCh37/hg19 3p26.3(chr3:61891-271907)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 816602	GRCh37/hg19 3p26.3(chr3:295737-354495)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 816595	GRCh37/hg19 3p26.3(chr3:326726-563399)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 816594	GRCh37/hg19 3p26.3(chr3:282750-354495)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 814395	GRCh37/hg19 3p26.3(chr3:429176-730529)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 814393	GRCh37/hg19 3p26.3(chr3:298102-2679515)x1	CNTN4, CNTN6 +1 more	Copy number loss	not provided	GPathogenic
Select item 814390	GRCh37/hg19 3p26.3-26.2(chr3:224614-2878047)x3	CHL1, CNTN6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814387	GRCh37/hg19 3p26.3(chr3:61891-1717877)x1	CHL1, CNTN6	Copy number loss	not provided	GLikely pathogenic
Select item 562706	GRCh37/hg19 3p26.3(chr3:441616-2770509)x1	CHL1, CNTN6 +1 more	Copy number loss	not provided	GUncertain significance
Select item 562705	GRCh37/hg19 3p26.3(chr3:419092-552189)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562704	GRCh37/hg19 3p26.3(chr3:400612-556260)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562703	GRCh37/hg19 3p26.3(chr3:300896-763586)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562702	GRCh37/hg19 3p26.3(chr3:291529-768230)x4	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562701	GRCh37/hg19 3p26.3(chr3:285805-318812)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 562700	GRCh37/hg19 3p26.3(chr3:242240-556260)x1	CHL1	Copy number loss	not provided	GLikely pathogenic
Select item 562699	GRCh37/hg19 3p26.3(chr3:205861-1067569)x4	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562698	GRCh37/hg19 3p26.3(chr3:115780-320034)x1	CHL1	Copy number loss	not provided	GLikely pathogenic
Select item 562697	GRCh37/hg19 3p26.3(chr3:95356-1127033)x1	CHL1	Copy number loss	not provided	GUncertain significance
Select item 562696	GRCh37/hg19 3p26.3(chr3:87137-374869)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562695	GRCh37/hg19 3p26.3(chr3:86203-433578)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562694	GRCh37/hg19 3p26.3(chr3:79966-431824)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562693	GRCh37/hg19 3p26.3(chr3:77040-431326)x3	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562692	GRCh37/hg19 3p26.3(chr3:71403-399110)x4	CHL1	Copy number gain	not provided	GUncertain significance
Select item 562691	GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1	SUMF1, TTLL3 +41 more	Copy number loss	not provided	GPathogenic
Select item 562690	GRCh37/hg19 3p26.3-26.1(chr3:61891-8173161)x1	CRBN, LRRN1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562689	GRCh37/hg19 3p26.3-26.1(chr3:61891-7875536)x1	TRNT1, SUMF1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562688	GRCh37/hg19 3p26.3-26.1(chr3:61891-7486254)x1	SETMAR, EDEM1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562687	GRCh37/hg19 3p26.3-26.1(chr3:61891-7032830)x1	EDEM1, EGOT +13 more	Copy number loss	not provided	GPathogenic
Select item 562686	GRCh37/hg19 3p26.3-26.1(chr3:61891-5167964)x1	IL5RA, BHLHE40 +11 more	Copy number loss	not provided	GPathogenic
Select item 562685	GRCh37/hg19 3p26.3-26.1(chr3:61891-4098164)x1	CHL1, TRNT1 +5 more	Copy number loss	not provided	GPathogenic
Select item 562684	GRCh37/hg19 3p26.3(chr3:61891-2447256)x1	CNTN4, CHL1 +1 more	Copy number loss	not provided	GPathogenic
Select item 562683	GRCh37/hg19 3p26.3(chr3:61891-1891570)x1	CNTN6, CHL1	Copy number loss	not provided	GPathogenic
Select item 562682	GRCh37/hg19 3p26.3(chr3:61891-335877)x3	CHL1	Copy number gain	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

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Search results

Items: 54