"GeneDx"[submitter] AND "LOC129999670"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 359365	NM_016203.3(PRKAG2):c.-560C>T	LOC129999670, PRKAG2 +1 more	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 669441	NM_016203.3(PRKAG2):c.-769G>C	LOC129999670, PRKAG2 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1264176	NC_000007.14:g.151877573C>T	PRKAG2-AS1, LOC129999670 +1 more	Single nucleotide variant	not provided	GBenign

ClinVar