"Johns Hopkins Genomics, Johns Hopkins University"[submitter] AND "LOC - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1275739	NM_000492.4(CFTR):c.2620-674_3367+232del	CFTR, LOC111674472	Deletion (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 53614	NM_000492.4(CFTR):c.2989-2A>G	LOC111674472, CFTR	Single nucleotide variant (splice acceptor 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 53638	NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)	CFTR, LOC111674472	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 53640	NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)	CFTR, LOC111674472 (F1016S)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 38480	NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)	CFTR, LOC111674472	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 35860	NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)	CFTR, LOC111674472	Single nucleotide variant (missense variant)	CFTR-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 35864	NM_000492.4(CFTR):c.3140-26A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 35865	NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	CFTR, LOC111674472 (F1052V)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 977083	NM_000492.4(CFTR):c.3174C>T (p.Ser1058=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 53670	NM_000492.4(CFTR):c.3177A>G (p.Leu1059=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis +2 more	GLikely benign
Select item 53672	NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)	LOC111674472, CFTR	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
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 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 53684	NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	LOC111674472, CFTR (G1069R)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GConflicting classifications of pathogenicity
Select item 618934	NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs)	CFTR, LOC111674472 (F1078fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 53690	NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)	CFTR, LOC111674472 (L1077P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 816681	NM_000492.4(CFTR):c.3249T>A (p.Asn1083Lys)	LOC111674472, CFTR (N1083K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 871193	NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala)	LOC111674472, CFTR (T1086A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 53697	NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)	CFTR, LOC111674472 (N1088D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
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 195464	NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)	CFTR, LOC111674472	Single nucleotide variant (synonymous variant)	Cystic fibrosis +4 more	GConflicting classifications of pathogenicity
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 53711	NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)	LOC111674472, CFTR (Q1100P)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
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

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Items: 29