"Counsyl"[submitter] AND "LOC111674463"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557329	NM_000492.3(CFTR):c.-893_-891del	LOC111674463, CFTR	Deletion	Cystic fibrosis	GUncertain significance
Select item 558519	NM_000492.3(CFTR):c.-837T>C	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 550903	NM_000492.3(CFTR):c.-674T>C	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 557109	NM_000492.3(CFTR):c.-600dup	LOC111674463, CFTR	Duplication	Cystic fibrosis	GUncertain significance
Select item 553817	NM_000492.4(CFTR):c.-602A>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 51030	NC_000007.14:g.117479600C>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 189027	NC_000007.14:g.117479634A>G	LOC111674463, CFTR	Single nucleotide variant	Hereditary pancreatitis +2 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 439059	NC_000007.14:g.117479930G>A	CFTR, LOC111674463	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 552672	NM_000492.4(CFTR):c.-34C>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 53158	NM_000492.4(CFTR):c.-9_14del (p.Met1fs)	CFTR, LOC111674463 (M1fs)	Deletion (frameshift variant +1 more)	Cystic fibrosis	GPathogenic
Select item 556329	NM_000492.4(CFTR):c.-8GA[4]	CFTR, LOC111674463	Microsatellite (5 prime UTR variant)	Cystic fibrosis	GUncertain significance