103752586[Gene ID] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 154534	GRCh38/hg38 2p22.3(chr2:32289459-33024069)x3	BIRC6, BIRC6-AS2 +17 more	Copy number gain	See cases	GBenign
Select item 2499640	GRCh38/hg38 2p22.3(chr2:32415095-33099301)	MIR4765, MIR558 +17 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 146388	GRCh38/hg38 2p22.3(chr2:32438092-33069715)x3	BIRC6, BIRC6-AS2 +17 more	Copy number gain	See cases	GLikely benign
Select item 144608	GRCh38/hg38 2p22.3(chr2:32452615-33032312)x3	BIRC6, BIRC6-AS2 +15 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160839	GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3	BIRC6, BIRC6-AS2 +15 more	Copy number gain	See cases	GBenign
Select item 145857	GRCh38/hg38 2p22.3(chr2:32452646-33069656)x3	BIRC6, BIRC6-AS2 +17 more	Copy number gain	See cases	GBenign/Likely benign
Select item 31967	GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3	BIRC6, BIRC6-AS2 +15 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 545277	NC_000002.12:g.(?_32528746)_(32559427_?)del	BIRC6, BIRC6-AS2 +1 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 151423	GRCh38/hg38 2p22.3(chr2:32562132-32743452)x3	BIRC6, BIRC6-AS2 +3 more	Copy number gain	See cases	GBenign
Select item 145728	GRCh38/hg38 2p22.3(chr2:32562132-32896519)x4	BIRC6, BIRC6-AS2 +7 more	Copy number gain	See cases	GBenign