LOC126860076[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 148376	GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3	APTR, CCDC146 +45 more	Copy number gain	See cases	GUncertain significance
Select item 147975	GRCh38/hg38 7q11.23(chr7:76509965-76928707)x1	LINC03009, LOC108228209 +4 more	Copy number loss	See cases	GBenign
Select item 147974	GRCh38/hg38 7q11.23(chr7:76509965-76928707)x3	LINC03009, LOC108228209 +4 more	Copy number gain	See cases	GBenign
Select item 149504	GRCh38/hg38 7q11.23(chr7:76509969-76882524)x3	LINC03009, LOC108228209 +4 more	Copy number gain	See cases	GLikely benign
Select item 146839	GRCh38/hg38 7q11.23(chr7:76509969-76994096)x1	LINC03009, LOC108228209 +6 more	Copy number loss	See cases	GLikely benign
Select item 146837	GRCh38/hg38 7q11.23(chr7:76509969-76994096)x3	LINC03009, LOC108228209 +6 more	Copy number gain	See cases	GBenign/Likely benign
Select item 146732	GRCh38/hg38 7q11.23(chr7:76509969-76927755)x3	LINC03009, LOC108228209 +4 more	Copy number gain	See cases	GBenign/Likely benign
Select item 157060	NC_000007.14:g.76514388_77008124dup	POMZP3, LOC108228209 +7 more	Duplication	Normal pregnancy	Gnot provided
Select item 154476	GRCh38/hg38 7q11.23(chr7:76584501-76928848)x1	LINC03009, LOC108228209 +2 more	Copy number loss	See cases	GBenign
Select item 150095	GRCh38/hg38 7q11.23(chr7:76584731-76927755)x3	LINC03009, LOC108228209 +2 more	Copy number gain	See cases	GLikely benign
Select item 149381	GRCh38/hg38 7q11.23(chr7:76584731-76882524)x3	LINC03009, LOC108228209 +2 more	Copy number gain	See cases	GLikely benign
Select item 145465	GRCh38/hg38 7q11.23(chr7:76584731-76994096)x3	LINC03009, LOC108228209 +4 more	Copy number gain	See cases	GBenign/Likely benign
Select item 221716	GRCh38/hg38 7q11.23(chr7:76659716-76927895)x1	LOC126860076	Copy number loss	Premature ovarian failure	GBenign
Select item 150286	GRCh38/hg38 7q11.23(chr7:76722673-76994096)x3	LOC126860076, LOC129389817 +1 more	Copy number gain	See cases	GLikely benign
Select item 149723	GRCh38/hg38 7q11.23(chr7:76722673-76927755)x3	LOC126860076	Copy number gain	See cases	GLikely benign

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Items: 23