"CFTR2"[submitter] AND "LOC111674472"[gene] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 634835	NM_000492.3(CFTR):c.[1397C>G;3209G>A]	CFTR, CFTR-AS1 +1 more (S466* +1 more)	Single nucleotide variant (nonsense +1 more)	Cystic fibrosis	GPathogenic
Select item 634837	NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]	CFTR, CFTR-AS1 +1 more	Deletion (inframe_deletion +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 53616	NM_000492.3(CFTR):c.2989_3139del151	CFTR, LOC111674472	Deletion	Cystic fibrosis	GPathogenic
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	CFTR, LOC111674472	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53623	NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)	CFTR, LOC111674472 (V1001fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 634830	NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del)	CFTR, LOC111674472	Deletion (inframe_deletion)	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 53635	NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs)	CFTR, LOC111674472 (Y1014fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53636	NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)	CFTR, LOC111674472 (Y1014fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
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 38480	NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)	CFTR, LOC111674472	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 53650	NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)	CFTR, LOC111674472 (Q1035*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53652	NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)	CFTR, LOC111674472 (T1036N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53654	NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter)	CFTR, LOC111674472 (Q1042*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53660	NM_000492.4(CFTR):c.3139_3139+1del	CFTR, LOC111674472	Deletion (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 35864	NM_000492.4(CFTR):c.3140-26A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
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 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 7158	NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)	CFTR, LOC111674472 (R1066H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 487379	NM_000492.4(CFTR):c.3217dup (p.Tyr1073fs)	LOC111674472, CFTR (Y1073fs)	Duplication (frameshift variant)	Cystic fibrosis	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 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)	LOC111674472, CFTR (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 618905	NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)	CFTR, LOC111674472 (W1098C)	Single nucleotide variant (missense variant)	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 53712	NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg)	CFTR, LOC111674472 (M1101R)	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 53722	NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)	CFTR, LOC111674472 (S1118F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic

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: 38