"GeneDx"[submitter] AND "LOC129992931"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 1296710	NC_000004.12:g.107989685C>A	HADH, LOC129992931	Single nucleotide variant	not provided	GBenign
Select item 347123	NM_005327.4(HADH):c.-193G>A	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GBenign/Likely benign
Select item 347127	NM_005327.4(HADH):c.-65G>A	HADH, LOC129992931	Single nucleotide variant	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +3 more	GBenign/Likely benign

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