"CFTR-France"[submitter] AND "LOC111674472"[gene] - ClinVar

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

Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705867	NM_000492.4(CFTR):c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG	CFTR, LOC111674472	Indel (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 1705878	NM_000492.4(CFTR):c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC	CFTR, LOC111674472	Indel (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 51033	NM_000492.4(CFTR):c.2989-977_3367+248del	CFTR, LOC111674472	Deletion (splice acceptor variant +1 more)	Cystic fibrosis	GPathogenic
Select item 818144	NM_000492.4(CFTR):c.2989-908_3085delinsGACAG	CFTR, LOC111674472	Indel (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 818113	NM_000492.4(CFTR):c.2989-313A>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	CFTR-related disorder +1 more	GPathogenic
Select item 818104	NM_000492.4(CFTR):c.2989-81del	LOC111674472, CFTR	Deletion (intron variant)	Cystic fibrosis	GBenign
Select item 53614	NM_000492.4(CFTR):c.2989-2A>G	CFTR, LOC111674472	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53613	NM_000492.4(CFTR):c.2989-1G>A	LOC111674472, CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
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 53618	NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)	CFTR, LOC111674472	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 618911	NM_000492.4(CFTR):c.3011del (p.Ala1004fs)	CFTR, LOC111674472 (A1004fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53627	NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)	CFTR, LOC111674472 (A1006E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53629	NM_000492.4(CFTR):c.3022del (p.Val1008fs)	CFTR, LOC111674472 (V1008fs)	Deletion (frameshift variant)	Cystic fibrosis +1 more	GPathogenic/Likely pathogenic
Select item 53645	NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del)	CFTR, LOC111674472	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 38480	NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)	CFTR, LOC111674472	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 53646	NM_000492.4(CFTR):c.3068_3072del (p.Ile1023fs)	CFTR, LOC111674472 (I1023fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
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 53654	NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter)	CFTR, LOC111674472 (Q1042*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53657	NM_000492.4(CFTR):c.3139+1G>A	CFTR, LOC111674472	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 35862	NM_000492.4(CFTR):c.3139+18C>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 619836	NM_000492.4(CFTR):c.3139+42A>T	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GBenign
Select item 695177	NM_000492.4(CFTR):c.3140-92T>C	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis +1 more	GBenign
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 53667	NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)	CFTR, LOC111674472 (H1054D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53672	NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)	CFTR, LOC111674472	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7161	NM_000492.4(CFTR):c.3184_3188dup (p.Trp1063fs)	CFTR, LOC111674472 (W1063fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53674	NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter)	CFTR, LOC111674472 (W1063*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 818117	NM_000492.4(CFTR):c.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065fs)	CFTR, LOC111674472 (L1065fs)	Insertion (frameshift variant)	Cystic fibrosis	GPathogenic
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 53678	NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu)	CFTR, LOC111674472 (R1066L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
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 53684	NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	CFTR, LOC111674472 (G1069R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +5 more	GConflicting classifications of pathogenicity
Select item 53685	NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	CFTR, LOC111674472 (R1070W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 35866	NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	CFTR, LOC111674472 (R1070Q)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53687	NM_000492.4(CFTR):c.3211C>T (p.Gln1071Ter)	CFTR, LOC111674472 (Q1071*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53689	NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs)	CFTR, LOC111674472 (L1077fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
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 7210	NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)	CFTR, LOC111674472 (H1085R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 53698	NM_000492.4(CFTR):c.3263dup (p.Asn1088fs)	CFTR, LOC111674472 (N1088fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53699	NM_000492.4(CFTR):c.3264del (p.Trp1089fs)	CFTR, LOC111674472 (W1089fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7194	NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)	CFTR, LOC111674472 (W1089*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 38728	NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)	CFTR, LOC111674472 (Y1092*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7211	NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter)	CFTR, LOC111674472 (Y1092*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53707	NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)	CFTR, LOC111674472 (W1098R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53708	NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter)	CFTR, LOC111674472 (W1098*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 209057	NM_000492.4(CFTR):c.3294G>A (p.Trp1098Ter)	CFTR, LOC111674472 (W1098X)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53709	NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)	CFTR, LOC111674472 (W1098C)	Single nucleotide variant (missense variant)	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 53713	NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter)	CFTR, LOC111674472 (R1102*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53715	NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter)	CFTR, LOC111674472 (E1104*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 552203	NM_000492.4(CFTR):c.3324del (p.Ile1109fs)	CFTR, LOC111674472 (I1109fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 53722	NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)	CFTR, LOC111674472 (S1118F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 439073	NM_000492.4(CFTR):c.3367+37G>A	CFTR, LOC111674472	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign

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: 55