"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC111674472"[ - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7229	NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	CFTR, LOC111674472 (L997F)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 53631	NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr)	CFTR, LOC111674472 (A1009T)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GUncertain significance
Select item 53634	NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)	LOC111674472, CFTR (P1013L)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
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 53647	NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)	CFTR, LOC111674472 (M1028R)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 35861	NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	CFTR, LOC111674472 (Y1032C)	Single nucleotide variant (missense variant)	CFTR-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 53652	NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)	LOC111674472, CFTR (T1036N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 439492	NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln)	CFTR, LOC111674472 (K1041Q)	Single nucleotide variant (missense variant)	not provided +2 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 35865	NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	LOC111674472, CFTR (F1052V)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 1693961	NM_000492.4(CFTR):c.3190A>G (p.Thr1064Ala)	CFTR, LOC111674472 (T1064A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7208	NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)	CFTR, LOC111674472 (L1065P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 53683	NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)	CFTR, LOC111674472 (A1067V)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 1728981	NM_000492.4(CFTR):c.3215C>A (p.Pro1072His)	CFTR, LOC111674472 (P1072H)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 3381026	NM_000492.4(CFTR):c.3218A>G (p.Tyr1073Cys)	CFTR, LOC111674472 (Y1073C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 53690	NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)	LOC111674472, CFTR (L1077P)	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 1163287	NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro)	CFTR, LOC111674472 (A1087P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 7194	NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)	CFTR, LOC111674472 (W1089*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 1163288	NM_000492.4(CFTR):c.3273G>T (p.Leu1091Phe)	CFTR, LOC111674472 (L1091F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 286681	NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)	CFTR, LOC111674472 (F1099L)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 3381027	NM_000492.4(CFTR):c.3311A>T (p.Glu1104Val)	CFTR, LOC111674472 (E1104V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25