"Illumina Laboratory Services, Illumina"[submitter] AND "LOC129992931" - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 902091	NM_005327.4(HADH):c.-203A>G	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 347122	NM_005327.4(HADH):c.-195A>G	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia, familial, 4 +1 more	GUncertain significance
Select item 347121	NM_005327.4(HADH):c.-195A>C	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia, familial, 4 +1 more	GUncertain significance
Select item 347123	NM_005327.4(HADH):c.-193G>A	HADH, LOC129992931	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 347124	NM_005327.4(HADH):c.-115delG	HADH, LOC129992931	Deletion	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +3 more	GUncertain significance/Uncertain risk allele
Select item 347125	NM_005327.4(HADH):c.-102G>A	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia, familial, 4 +3 more	GConflicting classifications of pathogenicity
Select item 902970	NM_005327.4(HADH):c.-86G>T	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 347126	NM_005327.4(HADH):c.-71C>T	HADH, LOC129992931	Single nucleotide variant	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GBenign/Likely benign
Select item 347127	NM_005327.4(HADH):c.-65G>A	HADH, LOC129992931	Single nucleotide variant	not provided +3 more	GBenign/Likely benign
Select item 900414	NM_005327.4(HADH):c.-56C>A	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 347128	NM_005327.4(HADH):c.-51delC	HADH, LOC129992931	Deletion	not specified +3 more	GUncertain significance/Uncertain risk allele