LOC120893122[gene] - 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	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 148288	GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3	ALPL, CELA3A +31 more	Copy number gain	See cases	GUncertain significance
Select item 2665068	GRCh38/hg38 1p36.12(chr1:21999190-22063093)	CDC42, CELA3A +9 more	Copy number gain	not provided	GUncertain significance

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