"GeneDx"[submitter] AND "LOC121853033"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 1280497	NC_000021.9:g.46097955A>T	COL6A2, LOC121853033	Single nucleotide variant	not provided	GBenign
Select item 384609	NM_001849.4(COL6A2):c.-43G>T	COL6A2, LOC121853033	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign

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