"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC111674472"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 53613	NM_000492.4(CFTR):c.2989-1G>A	LOC111674472, CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 35859	NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)	CFTR, LOC111674472 (P1013H)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GConflicting classifications of pathogenicity
Select item 53638	NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)	CFTR, LOC111674472	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 283775	NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys)	CFTR, LOC111674472 (G1047C)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +4 more	GUncertain significance
Select item 35864	NM_000492.4(CFTR):c.3140-26A>G	LOC111674472, CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 495927	NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)	LOC111674472, CFTR (I1051V)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 7162	NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)	CFTR, LOC111674472 (R1066C)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7158	NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)	CFTR, LOC111674472 (R1066H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 411123	NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser)	LOC111674472, CFTR (T1086S)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 7194	NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)	CFTR, LOC111674472 (W1089*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 495930	NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)	CFTR, LOC111674472 (Y1092H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 38728	NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)	CFTR, LOC111674472 (Y1092*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 39516	NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)	CFTR, LOC111674472 (M1101K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 852701	NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile)	CFTR, LOC111674472 (M1101I)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GUncertain significance