"GeneDx"[submitter] AND "LOC129932581"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 146036	GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1	CAPN2, CNIH3 +40 more	Copy number loss	See cases	GUncertain significance
Select item 1231294	NM_003676.4(DEGS1):c.*144A>G	DEGS1, LOC129932581	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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