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

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Search results

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1808868	GRCh37/hg19 22q11.21(chr22:21062134-21465662)x3	AIFM3, CRKL +7 more	Copy number gain	not provided	GUncertain significance
Select item 1808807	GRCh37/hg19 22q11.21(chr22:20980876-21129147)x3	PI4KA, SERPIND1	Copy number gain	not provided	GUncertain significance
Select item 1808742	GRCh37/hg19 22q11.21(chr22:20716877-21465659)x1	AIFM3, CRKL +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808741	GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	not provided	GPathogenic
Select item 1808737	GRCh37/hg19 22q11.21(chr22:18916843-21075592)x1	ARVCF, C22orf39 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808690	GRCh37/hg19 22q11.21(chr22:20725318-21800797)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808679	GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1	ARVCF, C22orf39 +30 more	Copy number loss	not provided	GPathogenic
Select item 1808672	GRCh37/hg19 22q11.21(chr22:21049800-21465662)x1	AIFM3, CRKL +7 more	Copy number loss	not provided	GPathogenic
Select item 1808642	GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1	C22orf39, CDC45 +49 more	Copy number loss	not provided	GPathogenic
Select item 1808633	GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1	AIFM3, ARVCF +50 more	Copy number loss	not provided	GPathogenic
Select item 1808620	GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3	LZTR1, KLHL22 +49 more	Copy number gain	not provided	GPathogenic
Select item 1808611	GRCh37/hg19 22q11.21(chr22:21188487-21804597)x1	AIFM3, CRKL +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808608	GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1	AIFM3, ARVCF +47 more	Copy number loss	not provided	GPathogenic
Select item 1808607	GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3	AIFM3, CCDC116 +23 more	Copy number gain	not provided	GPathogenic
Select item 1808461	GRCh37/hg19 22q11.21(chr22:21059670-21286988)x3	CRKL, PI4KA +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808421	GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1	CDC45, CLTCL1 +43 more	Copy number loss	not provided	GPathogenic
Select item 1808386	GRCh37/hg19 22q11.21(chr22:21103226-21260113)x1	PI4KA, SERPIND1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807875	GRCh37/hg19 22q11.21(chr22:19647905-21153690)x1	ARVCF, COMT +24 more	Copy number loss	not provided	GPathogenic
Select item 1807784	GRCh37/hg19 22q11.21(chr22:21092648-21465662)x1	AIFM3, CRKL +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807748	GRCh37/hg19 22q11.21(chr22:20728957-21800797)x1	P2RX6, RIMBP3B +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807726	GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1	C22orf39, AIFM3 +47 more	Copy number loss	not provided	GPathogenic
Select item 1807721	GRCh37/hg19 22q11.21(chr22:20725309-21804563)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807719	GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3	AIFM3, ARVCF +47 more	Copy number gain	not provided	GPathogenic
Select item 1807715	GRCh37/hg19 22q11.21(chr22:20728957-21798907)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GPathogenic
Select item 1807705	GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1807702	GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3	RTL10, RTN4R +47 more	Copy number gain	not provided	GPathogenic
Select item 1340618	GRCh37/hg19 22q11.21(chr22:20717655-21465662)x3	AIFM3, CRKL +12 more	Copy number gain	not provided	GUncertain significance
Select item 1340542	GRCh37/hg19 22q11.21(chr22:20728957-21915096)x1	AIFM3, CRKL +18 more	Copy number loss	not provided	GPathogenic
Select item 1340537	GRCh37/hg19 22q11.21(chr22:21059670-21465659)x3	AIFM3, CRKL +7 more	Copy number gain	not provided	GUncertain significance
Select item 1340455	GRCh37/hg19 22q11.21(chr22:21033398-21465659)x3	AIFM3, CRKL +7 more	Copy number gain	not provided	GUncertain significance
Select item 1340423	GRCh37/hg19 22q11.21(chr22:21059670-21217876)x3	PI4KA, SERPIND1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340046	GRCh37/hg19 22q11.21(chr22:21059669-21804716)x1	SERPIND1, SLC7A4 +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 980808	GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3	AIFM3, ARVCF +60 more	Copy number gain	not provided	GPathogenic
Select item 980807	GRCh37/hg19 22q11.21(chr22:20818353-21465659)x3	AIFM3, CRKL +9 more	Copy number gain	not provided	GUncertain significance
Select item 980805	GRCh37/hg19 22q11.21(chr22:21067691-21129559)x1	PI4KA, SERPIND1	Copy number loss	not provided	GUncertain significance
Select item 980803	GRCh37/hg19 22q11.21(chr22:18648866-21465659)x4	AIFM3, ARVCF +46 more	Copy number gain	not provided	GPathogenic
Select item 980802	GRCh37/hg19 22q11.21(chr22:19024656-21465662)x3	AIFM3, ARVCF +43 more	Copy number gain	not provided	GPathogenic
Select item 980801	GRCh37/hg19 22q11.21(chr22:21049799-21153690)x3	PI4KA, SERPIND1	Copy number gain	not provided	GLikely benign
Select item 816207	GRCh37/hg19 22q11.21(chr22:21059669-21202765)x3	PI4KA, SERPIND1	Copy number gain	not provided	GUncertain significance
Select item 816206	GRCh37/hg19 22q11.21(chr22:21033397-21465662)x3	THAP7, PI4KA +7 more	Copy number gain	not provided	GUncertain significance
Select item 816205	GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1	HIC2, YDJC +23 more	Copy number loss	not provided	GPathogenic
Select item 816204	GRCh37/hg19 22q11.21(chr22:21022257-21302080)x3	SERPIND1, PI4KA +2 more	Copy number gain	not provided	GUncertain significance
Select item 816203	GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3	ADORA2A, AIFM3 +66 more	Copy number gain	not provided	GPathogenic
Select item 816200	GRCh37/hg19 22q11.21(chr22:18916842-21075592)x1	ARVCF, C22orf39 +36 more	Copy number loss	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 816196	GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3	ADA2, AIFM3 +76 more	Copy number gain	not provided	GPathogenic
Select item 565044	GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1	AIFM3, ARVCF +52 more	Copy number loss	not provided	GPathogenic
Select item 565042	GRCh37/hg19 22q11.21(chr22:18626108-21800797)x1	AIFM3, ARVCF +49 more	Copy number loss	not provided	GPathogenic
Select item 565041	GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1	AIFM3, ARVCF +49 more	Copy number loss	not provided	GPathogenic
Select item 565040	GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1	AIFM3, BCR +39 more	Copy number loss	not provided	GPathogenic
Select item 565039	GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1	AIFM3, ARVCF +47 more	Copy number loss	not provided	GPathogenic
Select item 565038	GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1	USP18, USP41 +46 more	Copy number loss	not provided	GPathogenic
Select item 565037	GRCh37/hg19 22q11.21(chr22:18645353-21465659)x3	THAP7, TMEM191B +46 more	Copy number gain	not provided	GPathogenic
Select item 565036	GRCh37/hg19 22q11.21(chr22:18916827-21465659)x3	AIFM3, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 565035	GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1	AIFM3, ARVCF +44 more	Copy number loss	not provided	GPathogenic
Select item 565034	GRCh37/hg19 22q11.21(chr22:18935463-21465659)x1	AIFM3, ARVCF +43 more	Copy number loss	not provided	GPathogenic
Select item 565033	GRCh37/hg19 22q11.21(chr22:18970560-21465662)x3	DGCR2, USP41 +43 more	Copy number gain	not provided	GPathogenic
Select item 565023	GRCh37/hg19 22q11.21(chr22:20311903-21800797)x1	AIFM3, CRKL +19 more	Copy number loss	not provided	GPathogenic
Select item 565015	GRCh37/hg19 22q11.21(chr22:20311903-21465659)x1	AIFM3, CRKL +16 more	Copy number loss	not provided	GPathogenic
Select item 565014	GRCh37/hg19 22q11.21(chr22:20716876-21798907)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GPathogenic
Select item 565010	GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1	AIFM3, CRKL +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 565009	GRCh37/hg19 22q11.21(chr22:20732808-21464764)x3	SCARF2, SERPIND1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 565001	GRCh37/hg19 22q11.21(chr22:21049799-21465662)x1	LZTR1, PI4KA +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 564998	GRCh37/hg19 22q11.21(chr22:21075675-21465662)x1	P2RX6, PI4KA +7 more	Copy number loss	not provided	GLikely pathogenic

ClinVar

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Germline classification

Types of conflicts

Molecular consequence

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Search results

Items: 64