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

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685845	GRCh37/hg19 1q44(chr1:245399987-245977251)x3	KIF26B, SMYD3	Copy number gain	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1808995	GRCh37/hg19 1q44(chr1:246174091-246702637)x3	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 1808697	GRCh37/hg19 1q43-44(chr1:243085543-247137125)x3	ADSS2, AHCTF1 +16 more	Copy number gain	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1808579	GRCh37/hg19 1q44(chr1:246037516-246465146)x4	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 1808320	GRCh37/hg19 1q44(chr1:246606995-246890533)x3	CNST, SCCPDH +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807822	GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3	ADSS2, AHCTF1 +69 more	Copy number gain	not provided	GPathogenic
Select item 1340896	GRCh37/hg19 1q44(chr1:245964948-246158491)x1	SMYD3	Copy number loss	not provided	GLikely benign
Select item 1340148	GRCh37/hg19 1q44(chr1:245904749-246056135)x1	SMYD3	Copy number loss	not provided	GLikely benign
Select item 980430	GRCh37/hg19 1q44(chr1:245748471-246117191)x3	SMYD3, KIF26B	Copy number gain	not provided	GUncertain significance
Select item 980429	GRCh37/hg19 1q44(chr1:246067928-246502233)x3	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 980427	GRCh37/hg19 1q44(chr1:245500158-246384914)x1	SMYD3, KIF26B	Copy number loss	not provided	GUncertain significance
Select item 980426	GRCh37/hg19 1q44(chr1:246174090-246701687)x3	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 814202	GRCh37/hg19 1q44(chr1:246530458-246608001)x1	SMYD3	Copy number loss	not provided	GUncertain significance
Select item 814201	GRCh37/hg19 1q44(chr1:246382096-247018065)x3	SMYD3, TFB2M +3 more	Copy number gain	not provided	GLikely benign
Select item 814200	GRCh37/hg19 1q44(chr1:246193103-246688599)x1	SMYD3	Copy number loss	not provided	GLikely benign
Select item 814199	GRCh37/hg19 1q44(chr1:246174090-246674868)x3	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 814198	GRCh37/hg19 1q44(chr1:246060750-246382096)x1	SMYD3	Copy number loss	not provided	GLikely benign
Select item 814196	GRCh37/hg19 1q44(chr1:244546830-246826108)x3	CATSPERE, CNST +9 more	Copy number gain	not provided	GUncertain significance
Select item 565255	GRCh37/hg19 1q44(chr1:246179294-246674868)x3	SMYD3	Copy number gain	not provided	GUncertain significance
Select item 565254	GRCh37/hg19 1q44(chr1:246060750-246810088)x3	TFB2M, SMYD3 +1 more	Copy number gain	not provided	GLikely benign
Select item 565253	GRCh37/hg19 1q44(chr1:245278737-245971950)x1	KIF26B, EFCAB2 +1 more	Copy number loss	not provided	GPathogenic
Select item 565250	GRCh37/hg19 1q44(chr1:244797639-249224684)x1	AHCTF1, CATSPERE +63 more	Copy number loss	not provided	GPathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic

ClinVar

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Items: 28