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

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Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685781	GRCh37/hg19 Xq28(chrX:154568758-154930047)x2	F8A2, F8A3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1808573	GRCh37/hg19 Xq28(chrX:154697070-155233731)x0	TMLHE	Copy number loss	not provided	GLikely pathogenic
Select item 1808016	GRCh37/hg19 Xq28(chrX:154627675-154859657)x3	F8A3, H2AB3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807675	GRCh37/hg19 Xq28(chrX:153613883-155233731)x2	ATP6AP1, BRCC3 +33 more	Copy number gain	not provided	GPathogenic
Select item 1807667	GRCh37/hg19 Xq28(chrX:154617565-155233731)x3	F8A3, H2AB3 +1 more	Copy number gain	not provided	GUncertain significance
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 1340161	GRCh37/hg19 Xq28(chrX:154543235-154739500)x2	CLIC2, F8A2 +4 more	Copy number gain	not provided	GLikely benign
Select item 980877	GRCh37/hg19 Xq28(chrX:154617601-154840698)x2	F8A3, H2AB3 +1 more	Copy number gain	not provided	GLikely benign
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 979244	GRCh37/hg19 Xq28(chrX:154739499-154789638)x1	TMLHE	Copy number loss	not provided	GUncertain significance
Select item 979242	GRCh37/hg19 Xq28(chrX:154752099-154827787)x0	TMLHE	Copy number loss	not provided	GUncertain significance
Select item 816420	GRCh37/hg19 Xq28(chrX:154752979-154813224)x1	TMLHE	Copy number loss	not provided	GUncertain significance
Select item 816419	GRCh37/hg19 Xq28(chrX:154739600-155000584)x3	TMLHE	Copy number gain	not provided	GLikely benign
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 564946	GRCh37/hg19 Xq28(chrX:154651300-154909158)x2	TMLHE, H2AB3 +1 more	Copy number gain	not provided	GLikely benign
Select item 564941	GRCh37/hg19 Xq28(chrX:153749360-155233731)x3	DKC1, F8A2 +22 more	Copy number gain	not provided	GPathogenic
Select item 564913	GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3	ABCD1, AFF2 +136 more	Copy number gain	not provided	GPathogenic
Select item 564912	GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1	ABCD1, AFF2 +141 more	Copy number loss	not provided	GPathogenic
Select item 564908	GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1	ABCD1, AFF2 +145 more	Copy number loss	not provided	GPathogenic
Select item 564897	GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	ABCD1, ACTRT1 +214 more	Copy number loss	not provided	GPathogenic
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	GPathogenic
Select item 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic

ClinVar

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Items: 30