"GeneDx"[submitter] AND "LOC111674463"[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 1313755	NC_000007.14:g.117478787A>G	CFTR, LOC111674463	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 439085	NC_000007.14:g.117479647A>G	CFTR, LOC111674463	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 51031	NM_000492.4(CFTR):c.-226G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 439059	NC_000007.14:g.117479930G>A	CFTR, LOC111674463	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 597979	NM_000492.3(CFTR):c.-152G>C	CFTR, LOC111674463	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 93148	NM_000492.4(CFTR):c.-8G>C	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	CFTR-related disorder +4 more	GBenign/Likely benign

ClinVar