"GeneDx"[submitter] AND "LOC130009748"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	LOC126861771, LOC126861772 +215 more	Copy number loss	See cases	GPathogenic
Select item 1235212	NC_000013.11:g.48001435del	LOC130009748, SUCLA2 +1 more	Deletion	not provided	GBenign
Select item 676448	NM_003850.2(SUCLA2):c.-182C>G	LOC130009748, SUCLA2 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign

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