ClinVar for Gene (Select 126806152) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545241	NC_000002.12:g.(?_11177745)_(16113827_?)del	MYCNUT, NBAS +100 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129932995, LOC129932996 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	LOC129933180, LOC129933181 +498 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	LOC126806154, LOC126806155 +546 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +736 more	Copy number gain	See cases	GPathogenic
Select item 147945	GRCh38/hg38 2p24.3(chr2:13664310-16228425)x1	DDX1, GACAT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 145383	GRCh38/hg38 2p24.3(chr2:14715345-16305738)x3	DDX1, GACAT3 +17 more	Copy number gain	See cases	GUncertain significance
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic