"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC111674475"[gen - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 598095	NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr)	CFTR, LOC111674475 (I539T)	Single nucleotide variant (missense variant)	not specified +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)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 40190	NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	CFTR, LOC111674475 (S549R)	Single nucleotide variant (missense variant)	Cystic fibrosis +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 7123	NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)	CFTR, LOC111674475 (A559T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7113	NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)	CFTR, LOC111674475 (R560T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic