"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC111674475"[ - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 35828	NM_000492.4(CFTR):c.1585-8G>A	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 7112	NM_000492.4(CFTR):c.1585-1G>A	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7173	NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)	CFTR, LOC111674475	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 595238	NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu)	LOC111674475, CFTR (K536E)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 598095	NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr)	CFTR, LOC111674475 (I539T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 7115	NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	CFTR, LOC111674475 (G542*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7116	NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)	CFTR, LOC111674475 (S549N)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 7142	NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	CFTR, LOC111674475 (G551S)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
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 7122	NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	CFTR, LOC111674475 (R553*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7196	NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)	CFTR, LOC111674475 (I556V)	Single nucleotide variant (missense variant)	CFTR-related disorders +3 more	GConflicting classifications of pathogenicity
Select item 2573429	NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)	CFTR, LOC111674475 (A559P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 7113	NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)	CFTR, LOC111674475 (R560T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 416594	NM_000492.4(CFTR):c.1679+9C>G	CFTR, LOC111674475	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity