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

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Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685901	GRCh37/hg19 3p26.3-26.2(chr3:2325704-3741221)x3	CNTN4, CRBN +2 more	Copy number gain	not provided	GUncertain significance
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 2685070	GRCh37/hg19 3p26.3-26.2(chr3:2705933-2878047)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 2685069	GRCh37/hg19 3p26.3(chr3:2493918-2745680)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 2685068	GRCh37/hg19 3p26.3-26.2(chr3:2282130-2823747)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 2685034	GRCh37/hg19 3p26.3(chr3:1467499-2540440)x4	CNTN4	Copy number gain	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 1809285	GRCh37/hg19 3p26.3-26.2(chr3:2705933-2841901)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 1809026	GRCh37/hg19 3p26.3(chr3:2515737-2581603)x1	CNTN4	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 1808511	GRCh37/hg19 3p26.3-26.1(chr3:2347813-6381546)x3	ARL8B, BHLHE40 +10 more	Copy number gain	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 1341279	GRCh37/hg19 3p26.3(chr3:2347813-2401051)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 1341074	GRCh37/hg19 3p26.3(chr3:985496-2313320)x3	CNTN4, CNTN6	Copy number gain	not provided	GUncertain significance
Select item 1341021	GRCh37/hg19 3p26.3(chr3:2540448-2637661)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 1340922	GRCh37/hg19 3p26.3(chr3:905428-2191987)x3	CNTN4, CNTN6	Copy number gain	not provided	GUncertain significance
Select item 1340899	GRCh37/hg19 3p26.3-26.2(chr3:2212317-2821761)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 1340860	GRCh37/hg19 3p26.2(chr3:2864842-3297580)x3	CNTN4, CRBN +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340818	GRCh37/hg19 3p26.2(chr3:2886526-3197036)x3	CNTN4, CRBN +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340710	GRCh37/hg19 3p26.3(chr3:1300947-2263514)x3	CNTN4, CNTN6	Copy number gain	not provided	GUncertain significance
Select item 1340545	GRCh37/hg19 3p26.3(chr3:2077328-2515894)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 1340536	GRCh37/hg19 3p26.3(chr3:2600696-2744663)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 1340397	GRCh37/hg19 3p26.3(chr3:666860-2788185)x3	CNTN4, CNTN6	Copy number gain	not provided	GUncertain significance
Select item 1340381	GRCh37/hg19 3p26.3(chr3:1479813-2285483)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 1340253	GRCh37/hg19 3p26.3(chr3:2235683-2376679)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 1340199	GRCh37/hg19 3p26.3(chr3:1508494-2708703)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 1340182	GRCh37/hg19 3p26.3(chr3:1949117-2427030)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 1340078	GRCh37/hg19 3p26.3(chr3:2217010-2475799)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 1340031	GRCh37/hg19 3p26.3(chr3:2109853-2401051)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 979438	GRCh37/hg19 3p26.3-26.2(chr3:2371830-2918744)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 979437	GRCh37/hg19 3p26.3-26.2(chr3:2212317-2878047)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 979436	GRCh37/hg19 3p26.3(chr3:1967627-2770509)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 979431	GRCh37/hg19 3p26.3(chr3:2034354-2573779)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 979429	GRCh37/hg19 3p26.3(chr3:1564082-2199002)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 979427	GRCh37/hg19 3p26.3(chr3:2347812-2401051)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 979425	GRCh37/hg19 3p26.3(chr3:1975943-2426277)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 979422	GRCh37/hg19 3p26.3(chr3:2593153-2637571)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 979420	GRCh37/hg19 3p26.3(chr3:1139752-2200851)x3	CNTN6, CNTN4	Copy number gain	not provided	GUncertain significance
Select item 816601	GRCh37/hg19 3p26.3(chr3:1827966-2770509)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 816600	GRCh37/hg19 3p26.3(chr3:1775844-2278069)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 816599	GRCh37/hg19 3p26.3(chr3:1440123-2795317)x1	CNTN4, CNTN6	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 814415	GRCh37/hg19 3p26.2(chr3:2878327-2940382)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 814414	GRCh37/hg19 3p26.2(chr3:2801518-2872587)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 814413	GRCh37/hg19 3p26.3-26.2(chr3:2613471-3003351)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 814412	GRCh37/hg19 3p26.3(chr3:2595392-2745680)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 814411	GRCh37/hg19 3p26.3-26.2(chr3:2150352-2991620)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 814410	GRCh37/hg19 3p26.3(chr3:2128664-2285975)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 814409	GRCh37/hg19 3p26.3-26.2(chr3:2034354-3425608)x3	IL5RA, CNTN4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814408	GRCh37/hg19 3p26.3(chr3:2016317-2171523)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 814407	GRCh37/hg19 3p26.3(chr3:1953296-2200851)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 814404	GRCh37/hg19 3p26.3(chr3:1750535-2199002)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 814397	GRCh37/hg19 3p26.3(chr3:698396-2556824)x3	CNTN4, CNTN6	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 562741	GRCh37/hg19 3p26.2(chr3:2803695-2903886)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 562740	GRCh37/hg19 3p26.3(chr3:2696759-2728783)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 562739	GRCh37/hg19 3p26.3(chr3:2595392-2744663)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 562738	GRCh37/hg19 3p26.3(chr3:2373772-2681131)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 562737	GRCh37/hg19 3p26.3(chr3:2358103-2482714)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 562736	GRCh37/hg19 3p26.3(chr3:2325703-2509036)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 562735	GRCh37/hg19 3p26.3(chr3:2325703-2386832)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 562734	GRCh37/hg19 3p26.3(chr3:2309378-2401051)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 562733	GRCh37/hg19 3p26.3-26.2(chr3:2303521-2818049)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 562732	GRCh37/hg19 3p26.3(chr3:2293101-2587427)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 562731	GRCh37/hg19 3p26.3(chr3:2217010-2475478)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 562730	GRCh37/hg19 3p26.3(chr3:2133226-2237215)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 562729	GRCh37/hg19 3p26.3-26.2(chr3:2091064-3638783)x1	IL5RA, CRBN +2 more	Copy number loss	not provided	GUncertain significance
Select item 562728	GRCh37/hg19 3p26.3(chr3:2077327-2521006)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 562727	GRCh37/hg19 3p26.3(chr3:1949116-2426341)x3	CNTN4	Copy number gain	not provided	GLikely benign
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 562722	GRCh37/hg19 3p26.3(chr3:1368769-2263514)x1	CNTN6, CNTN4	Copy number loss	not provided	GPathogenic
Select item 562706	GRCh37/hg19 3p26.3(chr3:441616-2770509)x1	CHL1, CNTN6 +1 more	Copy number loss	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

ClinVar

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Items: 83