"ISCA site 1"[submitter] AND "NIPBL"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 144780	GRCh38/hg38 5p13.2(chr5:36570605-37060917)x3	LOC114004393, LOC126807361 +13 more	Copy number gain	See cases	GUncertain significance
Select item 443694	GRCh37/hg19 5p13.2(chr5:36881528-37300606)x3	CPLANE1, NIPBL +1 more	Copy number gain	See cases	GUncertain significance
Select item 443203	GRCh37/hg19 5p13.2(chr5:36916860-36960224)x1	NIPBL	Copy number loss	See cases	GPathogenic
Select item 442914	GRCh37/hg19 5p13.2(chr5:36926004-37242249)x1	CPLANE1, NIPBL	Copy number loss	See cases	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442567	GRCh37/hg19 5p13.2(chr5:37043815-37567893)x3	CPLANE1, NIPBL +2 more	Copy number gain	See cases	GLikely benign
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441862	GRCh37/hg19 5p13.2(chr5:36916860-36960223)x1	NIPBL	Copy number loss	See cases	GPathogenic
Select item 441706	GRCh37/hg19 5p13.2(chr5:36814048-37347486)x3	CPLANE1, NIPBL +1 more	Copy number gain	See cases	GLikely pathogenic