"GeneDx"[submitter] AND "LOC130006765"[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 1320455	NC_000011.10:g.112226337C>T	LOC130006765, PTS	Single nucleotide variant	not provided	GLikely benign
Select item 1301490	NC_000011.10:g.112226363C>T	LOC130006765, PTS	Single nucleotide variant	not provided	GLikely benign
Select item 2156433	NM_000317.3(PTS):c.11A>G (p.Glu4Gly)	LOC130006765, PTS (E4G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449684	NM_000317.3(PTS):c.44C>T (p.Ser15Phe)	LOC130006765, PTS (S15F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1277260	NM_000317.3(PTS):c.83+84A>T	LOC130006765, PTS	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar