LOC126859769[gene] - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC129997076, LOC129997077 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 149820	GRCh38/hg38 6q21-22.1(chr6:113997278-116053529)x1	FRK, HDAC2-AS2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 144915	GRCh38/hg38 6q22.1(chr6:114960725-115149805)x3	LOC126859769, LOC126859770 +1 more	Copy number gain	See cases	GBenign
Select item 144897	GRCh38/hg38 6q22.1(chr6:114960725-115191315)x1	LOC126859769, LOC126859770 +2 more	Copy number loss	See cases	GBenign
Select item 144896	GRCh38/hg38 6q22.1(chr6:114960725-115191315)x4	LOC126859769, LOC126859770 +2 more	Copy number gain	See cases	GBenign
Select item 144895	GRCh38/hg38 6q22.1(chr6:114960725-115191315)x3	LOC126859769, LOC126859770 +2 more	Copy number gain	See cases	GBenign