ClinVar for Gene (Select 126859779) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 148855	GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1	LOC129997100, LOC129997101 +61 more	Copy number loss	See cases	GUncertain significance
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	ASF1A, CENPW +147 more	Copy number gain	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	TRE-CTC1-7, TRMT11 +75 more	Copy number loss	See cases	GUncertain significance
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 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

ClinVar