ClinVar for Gene (Select 103504737) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024346	GRCh38/hg38 2p16.3(chr2:50590007-50802034)	LOC110121071, LOC129388861 +2 more	Copy number loss	Autism spectrum disorder	GLikely pathogenic
Select item 560146	Single allele	LOC110121071, LOC129388861 +2 more	Deletion	Pitt-Hopkins-like syndrome 2	GPathogenic
Select item 545278	NC_000002.12:g.(?_50496341)_(51317388_?)del	LOC110121071, LOC126806216 +4 more	Deletion	Autism	GPathogenic
Select item 539893	NC_000002.12:g.(?_50465422)_(51032054_?)del	LOC110121071, LOC129388861 +2 more	Deletion	Pitt-Hopkins-like syndrome 2	GPathogenic
Select item 154949	GRCh38/hg38 2p16.3(chr2:48929614-50839499)x1	FSHR, LOC110121071 +8 more	Copy number loss	See cases	GPathogenic
Select item 154573	GRCh38/hg38 2p16.3(chr2:50623553-50754975)x1	MIR8485, NRXN1	Copy number loss	See cases	GPathogenic
Select item 154348	GRCh38/hg38 2p16.3(chr2:50172113-50801952)x3	LOC110121071, LOC129388861 +2 more	Copy number gain	See cases	GUncertain significance
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 152955	GRCh38/hg38 2p16.3(chr2:50654857-50720591)x1	MIR8485, NRXN1	Copy number loss	See cases	GUncertain significance
Select item 152847	GRCh38/hg38 2p16.3(chr2:50682627-51107991)x1	MIR8485, NRXN1 +1 more	Copy number loss	See cases	GPathogenic
Select item 152385	GRCh38/hg38 2p16.3(chr2:50624294-51265729)x1	LOC126806216, MIR8485 +2 more	Copy number loss	See cases	GPathogenic
Select item 152288	GRCh38/hg38 2p16.3(chr2:50619962-51329577)x1	LOC126806216, MIR8485 +2 more	Copy number loss	See cases	GPathogenic
Select item 151402	GRCh38/hg38 2p16.3(chr2:50587538-50730317)x1	LOC110121071, LOC129388861 +2 more	Copy number loss	See cases	GPathogenic
Select item 150713	GRCh38/hg38 2p16.3(chr2:50691323-50780852)x1	MIR8485, NRXN1	Copy number loss	See cases	GLikely benign
Select item 150602	GRCh38/hg38 2p16.3(chr2:50599412-50698758)x1	LOC110121071, MIR8485 +1 more	Copy number loss	See cases	GPathogenic
Select item 150467	GRCh38/hg38 2p16.3(chr2:49910932-52462336)x1	LINC01867, LOC110121071 +7 more	Copy number loss	See cases	GPathogenic
Select item 149978	GRCh38/hg38 2p16.3(chr2:50591217-50931162)x1	LOC110121071, LOC129388861 +2 more	Copy number loss	See cases	GPathogenic
Select item 149721	GRCh38/hg38 2p16.3(chr2:50654953-50720666)x1	MIR8485, NRXN1	Copy number loss	See cases	GLikely benign
Select item 149647	GRCh38/hg38 2p16.3(chr2:50498526-50830659)x1	LOC110121071, LOC129388861 +2 more	Copy number loss	See cases	GUncertain significance
Select item 148487	GRCh38/hg38 2p16.3(chr2:50574983-50710365)x1	LOC110121071, LOC129388861 +2 more	Copy number loss	See cases	GPathogenic
Select item 148229	GRCh38/hg38 2p16.3(chr2:50619962-50755034)x1	MIR8485, NRXN1	Copy number loss	See cases	GPathogenic
Select item 147766	GRCh38/hg38 2p16.3(chr2:50665709-50856331)x1	MIR8485, NRXN1	Copy number loss	See cases	GUncertain significance
Select item 145619	GRCh38/hg38 2p16.3(chr2:50453657-50710365)x1	LOC110121071, LOC129388861 +2 more	Copy number loss	See cases	GPathogenic
Select item 145618	GRCh38/hg38 2p16.3(chr2:50498591-50710365)x1	LOC110121071, LOC129388861 +2 more	Copy number loss	See cases	GPathogenic
Select item 144523	GRCh38/hg38 2p16.3(chr2:50682627-51009921)x1	MIR8485, NRXN1	Copy number loss	See cases	GUncertain significance
Select item 60140	GRCh38/hg38 2p16.3(chr2:50488123-50945044)x1	LOC110121071, LOC129388861 +2 more	Copy number loss	See cases	GPathogenic
Select item 60109	GRCh38/hg38 2p16.3(chr2:50448670-50909614)x1	LOC110121071, LOC129388861 +2 more	Copy number loss	See cases	GPathogenic
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 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

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Links from Gene

Items: 29