ClinVar for Gene (Select 79150) - ClinVar - NCBI

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

Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1338842	GRCh38/hg38 7p21.3(chr7:10609869-11290301)	LOC100131472, LOC110120772 +11 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 161064	GRCh38/hg38 7p21.3(chr7:10610069-11290160)x3	LOC100131472, LOC110120772 +11 more	Copy number gain	See cases	GUncertain significance
Select item 157039	Single allele	MGC4859	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC123924901, LOC123924902 +331 more	Copy number loss	See cases	GPathogenic
Select item 150899	GRCh38/hg38 7p21.3(chr7:7249455-10718595)x3	COL28A1, GLCCI1 +62 more	Copy number gain	See cases	GLikely benign
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	LOC129997985, LOC129997986 +560 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146714	GRCh38/hg38 7p21.3(chr7:9699856-10755511)x1	LOC100131472, LOC105375146 +12 more	Copy number loss	See cases	GUncertain significance
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 59567	GRCh38/hg38 7p21.3(chr7:10691723-11375132)x3	LOC100131472, LOC113687186 +9 more	Copy number gain	See cases	GUncertain significance
Select item 59566	GRCh38/hg38 7p21.3(chr7:10106458-11714808)x4	LOC100131472, LOC110120772 +15 more	Copy number gain	See cases	GUncertain significance
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 33404	GRCh38/hg38 7p21.3(chr7:10610069-11290160)x3	LOC100131472, LOC110120772 +11 more	Copy number gain	See cases	GUncertain significance