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

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Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1807847	GRCh37/hg19 4p16.3(chr4:68346-2437290)x1	ATP5ME, C4orf48 +37 more	Copy number loss	not provided	GPathogenic
Select item 1341163	GRCh37/hg19 4p16.3(chr4:68345-1675143)x1	ATP5ME, CPLX1 +24 more	Copy number loss	not provided	GPathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1340265	GRCh37/hg19 4p16.3(chr4:266347-289278)x1	ZNF732	Copy number loss	not provided	GLikely benign
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979467	GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	HGFAC, NOP14 +60 more	Copy number loss	not provided	GPathogenic
Select item 979465	GRCh37/hg19 4p16.3(chr4:68345-1109959)x1	ZNF732, TMEM175 +17 more	Copy number loss	not provided	GUncertain significance
Select item 979459	GRCh37/hg19 4p16.3(chr4:68345-2503033)x3	HAUS3, GAK +38 more	Copy number gain	not provided	GPathogenic
Select item 979458	GRCh37/hg19 4p16.3(chr4:68345-2137211)x1	POLN, CPLX1 +34 more	Copy number loss	not provided	GPathogenic
Select item 979456	GRCh37/hg19 4p16.3(chr4:1-1328868)x1	ZNF718, RNF212 +20 more	Copy number loss	not provided	GPathogenic
Select item 979454	GRCh37/hg19 4p16.3(chr4:152231-285043)x1	ZNF732, ZNF718	Copy number loss	not provided	GLikely benign
Select item 814526	GRCh37/hg19 4p16.3(chr4:121101-355120)x3	ZNF141, ZNF732 +1 more	Copy number gain	not provided	GLikely benign
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 814518	GRCh37/hg19 4p16.3(chr4:68345-2786584)x1	NKX1-1, MXD4 +40 more	Copy number loss	not provided	GPathogenic
Select item 562875	GRCh37/hg19 4p16.3(chr4:121549-533541)x3	ZNF732, ZNF141 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic

ClinVar

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Items: 24