"Ambry Genetics"[submitter] AND "LOC111674463"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 51027	NM_000492.4(CFTR):c.-887C>T	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis +3 more	GBenign/Likely benign
Select item 51029	NM_000492.4(CFTR):c.-812T>G	CFTR, LOC111674463	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3076103	NM_000492.3(CFTR):c.-752A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076102	NM_000492.3(CFTR):c.-687T>C	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076101	NM_000492.3(CFTR):c.-566A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076100	NM_000492.3(CFTR):c.-551T>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076099	NM_000492.3(CFTR):c.-548C>A	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076098	NM_000492.3(CFTR):c.-545A>C	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076097	NM_000492.3(CFTR):c.-536C>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076096	NM_000492.3(CFTR):c.-518G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 1745530	NM_000492.3(CFTR):c.-512C>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GLikely benign
Select item 1745194	NM_000492.3(CFTR):c.-507A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GLikely benign
Select item 439085	NC_000007.14:g.117479647A>G	CFTR, LOC111674463	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1789708	NM_000492.3(CFTR):c.-232G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GLikely benign
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 3076095	NM_000492.3(CFTR):c.-198G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076094	NM_000492.3(CFTR):c.-184G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076093	NM_000492.3(CFTR):c.-183G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076092	NM_000492.3(CFTR):c.-148A>G	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 3076091	NM_000492.3(CFTR):c.-146G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 2681864	NM_000492.3(CFTR):c.-116C>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +1 more	GUncertain significance
Select item 3076090	NM_000492.3(CFTR):c.-106G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
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 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
Select item 53157	NM_000492.4(CFTR):c.-4G>C	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis +2 more	GBenign/Likely benign
Select item 2447395	NM_000492.4(CFTR):c.-1C>G	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	Cystic fibrosis	GUncertain significance

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Items: 26