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

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Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685193	GRCh37/hg19 6p25.3(chr6:647204-1716710)x1	EXOC2, FOXC1 +4 more	Copy number loss	not provided	GPathogenic
Select item 2685192	GRCh37/hg19 6p25.3(chr6:156975-2072578)x1	DUSP22, EXOC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 2684440	GRCh37/hg19 6p25.3(chr6:1286450-1645873)x3	FOXC1, FOXF2 +2 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 1808989	GRCh37/hg19 6p25.3(chr6:1916017-2150008)x1	GMDS	Copy number loss	not provided	GUncertain significance
Select item 1808724	GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)x1	BPHL, DUSP22 +19 more	Copy number loss	not provided	GPathogenic
Select item 1808377	GRCh37/hg19 6p25.3-25.2(chr6:2162500-2864248)x3	GMDS, LINC01600 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340917	GRCh37/hg19 6p25.3(chr6:1440644-1695652)x3	FOXC1, GMDS	Copy number gain	not provided	GUncertain significance
Select item 1340497	GRCh37/hg19 6p25.3(chr6:1705438-1767134)x1	GMDS	Copy number loss	not provided	GUncertain significance
Select item 1340369	GRCh37/hg19 6p25.3(chr6:1397495-1927651)x3	FOXC1, GMDS	Copy number gain	not provided	GUncertain significance
Select item 980203	GRCh37/hg19 6p25.3-25.2(chr6:302183-3290583)x3	TUBB2A, DUSP22 +19 more	Copy number gain	not provided	GPathogenic
Select item 980202	GRCh37/hg19 6p25.3-25.2(chr6:2094762-2376301)x3	GMDS	Copy number gain	not provided	GLikely benign
Select item 814773	GRCh37/hg19 6p25.3-25.2(chr6:2167407-2775133)x3	WRNIP1, MYLK4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814772	GRCh37/hg19 6p25.3-25.2(chr6:2058918-2362369)x3	GMDS	Copy number gain	not provided	GLikely benign
Select item 814771	GRCh37/hg19 6p25.3(chr6:1949490-1999263)x1	GMDS	Copy number loss	not provided	GUncertain significance
Select item 814767	GRCh37/hg19 6p25.3(chr6:156974-2208360)x1	HUS1B, EXOC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 563147	GRCh37/hg19 6p25.3-25.2(chr6:2162499-2624262)x3	LINC01600, GMDS	Copy number gain	not provided	GUncertain significance
Select item 563146	GRCh37/hg19 6p25.3-25.2(chr6:1920928-2489477)x3	GMDS	Copy number gain	not provided	GLikely benign
Select item 563145	GRCh37/hg19 6p25.3(chr6:1875823-1964471)x1	GMDS	Copy number loss	not provided	GUncertain significance
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 563138	GRCh37/hg19 6p25.3-25.2(chr6:156974-3398920)x1	HUS1B, SERPINB6 +19 more	Copy number loss	not provided	GPathogenic

ClinVar

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Items: 23