"GeneDx"[submitter] AND "LOC130057734"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58354	GRCh38/hg38 15q25.1(chr15:79552851-80526230)x3	ARNT2, ARNT2-DT +38 more	Copy number gain	See cases	GUncertain significance
Select item 1707388	NC_000015.10:g.80152701_80152766del	FAH, LOC130057734	Deletion	not provided	GLikely benign
Select item 1258417	NM_001374377.1(FAH):c.-89G>C	FAH, LOC130057734	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1210808	NM_001374377.1(FAH):c.-88G>T	LOC130057734, FAH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 369102	NM_000137.4(FAH):c.-178G>A	FAH, LOC130057734	Single nucleotide variant (genic upstream transcript variant)	Hypertyrosinemia +1 more	GBenign/Likely benign
Select item 317196	NM_001374377.1(FAH):c.-30+45G>C	FAH, LOC130057734	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign

ClinVar