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

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Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685757	GRCh37/hg19 Xq21.33(chrX:96434708-96795016)x2	DIAPH2	Copy number gain	not provided	GUncertain significance
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685001	GRCh37/hg19 Xq21.33(chrX:96398956-97034983)x3	DIAPH2	Copy number gain	not provided	GUncertain significance
Select item 2685000	GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3	ARL13A, ARMCX1 +80 more	Copy number gain	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 979835	GRCh37/hg19 Xq21.33(chrX:95403686-96064475)x3	DIAPH2	Copy number gain	not provided	GUncertain significance
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 816372	GRCh37/hg19 Xq21.33(chrX:96771597-96832861)x1	DIAPH2	Copy number loss	not provided	GUncertain significance
Select item 816371	GRCh37/hg19 Xq21.33(chrX:96266915-96556797)x3	DIAPH2	Copy number gain	not provided	GUncertain significance
Select item 816370	GRCh37/hg19 Xq21.33(chrX:95321681-96771612)x3	DIAPH2, RPA4	Copy number gain	not provided	GUncertain significance
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 564873	GRCh37/hg19 Xq21.33(chrX:96763921-96991879)x0	DIAPH2	Copy number loss	not provided	GUncertain significance
Select item 564872	GRCh37/hg19 Xq21.33(chrX:96705988-96932550)x2	DIAPH2	Copy number gain	not provided	GLikely benign
Select item 564871	GRCh37/hg19 Xq21.33-22.1(chrX:93648810-98447684)x1	DIAPH2, RPA4	Copy number loss	not provided	GUncertain significance
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic
Select item 564867	GRCh37/hg19 Xq21.31-21.33(chrX:91023672-97733935)x1	RPA4, NAP1L3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 564866	GRCh37/hg19 Xq21.31-21.33(chrX:86794810-96275443)x1	NAP1L3, DIAPH2 +7 more	Copy number loss	not provided	GPathogenic

ClinVar

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Items: 22