ClinVar for Gene (Select 122056811) - ClinVar - NCBI

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Items: 5

	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 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic

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