LOC130061442[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 146504	GRCh38/hg38 17q23.3-24.1(chr17:64307125-64748462)x1	CEP95, DDX5 +22 more	Copy number loss	See cases	GUncertain significance
Select item 3143102	NM_138363.3(CEP95):c.4G>A (p.Ala2Thr)	CEP95, LOC130061442 (A2T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance

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