ClinVar for Gene (Select 126805638) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	LOC129929300, LOC129929301 +730 more	Copy number loss	See cases	GPathogenic
Select item 153787	GRCh38/hg38 1p36.13(chr1:17700973-18335637)x3	ACTL8, IGSF21 +7 more	Copy number gain	See cases	GUncertain significance
Select item 150155	GRCh38/hg38 1p36.13(chr1:17722922-18332415)x3	ACTL8, IGSF21 +7 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	ACTL8, AKR7A2 +206 more	Copy number loss	See cases	GPathogenic
Select item 147364	GRCh38/hg38 1p36.13(chr1:17742890-18305739)x3	ACTL8, IGSF21 +6 more	Copy number gain	See cases	GUncertain significance
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic

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