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

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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	NC_000007.14:g.117610519_117610669del	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	LOC111674472, CFTR	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)	LOC111674472, CFTR (Q1035*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 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	LOC111674472, CFTR	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)	CFTR, LOC111674472 (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)	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 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

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Items: 38