LOC130006760[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 1221657	NC_000011.10:g.112024469G>T	DLAT, LOC130006760	Single nucleotide variant	not provided	GBenign
Select item 1202884	NC_000011.10:g.112024510del	DLAT, LOC130006760	Deletion	not provided	GLikely benign
Select item 669707	NM_001931.4(DLAT):c.-944A>T	DLAT, LOC130006760	Single nucleotide variant	not provided	GBenign
Select item 669710	NM_001931.4(DLAT):c.-943G>T	DLAT, LOC130006760	Single nucleotide variant	not provided	GBenign

ClinVar