"GeneDx"[submitter] AND "LOC111674475"[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 1201798	NM_000492.4(CFTR):c.1585-152G>T	CFTR, LOC111674475	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 7112	NM_000492.4(CFTR):c.1585-1G>A	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 1305160	NM_000492.4(CFTR):c.1633G>A (p.Gly545Arg)	CFTR, LOC111674475 (G545R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7120	NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	CFTR, LOC111674475 (G551D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7123	NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)	CFTR, LOC111674475 (A559T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic

ClinVar