Related gene-specific medical variations for Gene (Select 111674477) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3231922	NM_000492.4(CFTR):c.4421A>T (p.Glu1474Val)	CFTR, LOC111674477 (E1474V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231921	NM_000492.4(CFTR):c.4373G>A (p.Cys1458Tyr)	CFTR, LOC111674477 (C1458Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231919	NM_000492.4(CFTR):c.4311C>G (p.Phe1437Leu)	CFTR, LOC111674477 (F1437L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231918	NM_000492.4(CFTR):c.4299G>A (p.Glu1433=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 3231916	NM_000492.4(CFTR):c.4284G>T (p.Gln1428His)	CFTR, LOC111674477 (Q1428H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231913	NM_000492.4(CFTR):c.4258A>G (p.Lys1420Glu)	CFTR, LOC111674477 (K1420E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231912	NM_000492.4(CFTR):c.4257C>A (p.Asn1419Lys)	CFTR, LOC111674477 (N1419K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3231911	NM_000492.4(CFTR):c.4247T>C (p.Ile1416Thr)	CFTR, LOC111674477 (I1416T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 3021388	NM_000492.4(CFTR):c.4304G>A (p.Ser1435Asn)	CFTR, LOC111674477 (S1435N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2918512	NM_000492.4(CFTR):c.4243-15C>A	CFTR, LOC111674477	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2916293	NM_000492.4(CFTR):c.4243-15C>T	CFTR, LOC111674477	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2911102	NM_000492.4(CFTR):c.4328C>G (p.Pro1443Arg)	CFTR, LOC111674477 (P1443R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2846977	NM_000492.4(CFTR):c.4315C>T (p.Gln1439Ter)	CFTR, LOC111674477 (Q1439*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 2845680	NM_000492.4(CFTR):c.4380T>C (p.Ser1460=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2843073	NM_000492.4(CFTR):c.4243-11C>T	CFTR, LOC111674477	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2836520	NM_000492.4(CFTR):c.4335C>T (p.Asp1445=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis +1 more	GLikely benign
Select item 2836360	NM_000492.4(CFTR):c.4365A>G (p.Ser1455=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2817806	NM_000492.4(CFTR):c.4325G>C (p.Ser1442Thr)	CFTR, LOC111674477 (S1442T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2746076	NM_000492.4(CFTR):c.4347C>G (p.Leu1449=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2719603	NM_000492.4(CFTR):c.4243-21_4243-18del	CFTR, LOC111674477	Deletion (intron variant)	Cystic fibrosis	GLikely benign
Select item 2680713	NM_000492.4(CFTR):c.4262_4263del (p.Val1421fs)	CFTR, LOC111674477 (V1421fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1	GLikely pathogenic
Select item 2664854	NM_000492.4(CFTR):c.4354C>T (p.His1452Tyr)	CFTR, LOC111674477 (H1452Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2627368	NM_000492.4(CFTR):c.4262T>A (p.Val1421Glu)	CFTR, LOC111674477 (V1421E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624953	NM_000492.4(CFTR):c.4339G>A (p.Val1447Met)	CFTR, LOC111674477 (V1447M)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2587602	NM_000492.4(CFTR):c.4288C>T (p.Leu1430=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2567876	NM_000492.4(CFTR):c.4384C>T (p.Pro1462Ser)	CFTR, LOC111674477 (P1462S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely benign
Select item 2567858	NM_000492.4(CFTR):c.4399C>T (p.Leu1467=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2562527	NM_000492.4(CFTR):c.4357C>A (p.Arg1453=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2562515	NM_000492.4(CFTR):c.4370A>T (p.Lys1457Met)	CFTR, LOC111674477 (K1457M)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2507398	NM_000492.4(CFTR):c.4312del (p.Arg1438fs)	CFTR, LOC111674477 (R1438fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 2503929	NM_000492.4(CFTR):c.4408G>T (p.Glu1470Ter)	CFTR, LOC111674477 (E1470*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 2453637	NM_000492.4(CFTR):c.4346T>C (p.Leu1449Pro)	CFTR, LOC111674477 (L1449P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2453622	NM_000492.4(CFTR):c.4253A>G (p.Glu1418Gly)	CFTR, LOC111674477 (E1418G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2453614	NM_000492.4(CFTR):c.4265G>C (p.Arg1422Pro)	CFTR, LOC111674477 (R1422P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2428644	NM_000492.4(CFTR):c.4324A>G (p.Ser1442Gly)	CFTR, LOC111674477 (S1442G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169003	NM_000492.4(CFTR):c.4305C>G (p.Ser1435Arg)	CFTR, LOC111674477 (S1435R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 2146451	NM_000492.4(CFTR):c.4243-4C>G	CFTR, LOC111674477	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2143913	NM_000492.4(CFTR):c.4245C>T (p.Val1415=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2124046	NM_000492.4(CFTR):c.4329C>T (p.Pro1443=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2108136	NM_000492.4(CFTR):c.4329C>G (p.Pro1443=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2018254	NM_000492.4(CFTR):c.4325del (p.Ser1442fs)	CFTR, LOC111674477 (S1442fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 2001307	NM_000492.4(CFTR):c.4298A>G (p.Glu1433Gly)	CFTR, LOC111674477 (E1433G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1913199	NM_000492.4(CFTR):c.4248A>T (p.Ile1416=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GUncertain significance
Select item 1789967	NM_000492.4(CFTR):c.*5C>T	CFTR, LOC111674477	Single nucleotide variant (3 prime UTR variant)	Cystic fibrosis	GUncertain significance
Select item 1740572	NM_000492.4(CFTR):c.4433C>A (p.Thr1478Lys)	CFTR, LOC111674477 (T1478K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1740551	NM_000492.4(CFTR):c.4430A>T (p.Asp1477Val)	CFTR, LOC111674477 (D1477V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1740505	NM_000492.4(CFTR):c.4424T>C (p.Val1475Ala)	LOC111674477, CFTR (V1475A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1740492	NM_000492.4(CFTR):c.4422G>A (p.Glu1474=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1740427	NM_000492.4(CFTR):c.4415A>T (p.Glu1472Val)	CFTR, LOC111674477 (E1472V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1740413	NM_000492.4(CFTR):c.4412C>T (p.Thr1471Ile)	CFTR, LOC111674477 (T1471I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1740249	NM_000492.4(CFTR):c.4394C>G (p.Ala1465Gly)	CFTR, LOC111674477 (A1465G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1740235	NM_000492.4(CFTR):c.4391T>C (p.Ile1464Thr)	CFTR, LOC111674477 (I1464T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1740098	NM_000492.4(CFTR):c.4371G>A (p.Lys1457=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1739976	NM_000492.4(CFTR):c.4358G>A (p.Arg1453Gln)	CFTR, LOC111674477 (R1453Q)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 1739893	NM_000492.4(CFTR):c.4347C>T (p.Leu1449=)	LOC111674477, CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1739879	NM_000492.4(CFTR):c.4344G>A (p.Lys1448=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1739830	NM_000492.4(CFTR):c.4338G>A (p.Arg1446=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1739793	NM_000492.4(CFTR):c.4331C>T (p.Ser1444Phe)	CFTR, LOC111674477 (S1444F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1739743	NM_000492.4(CFTR):c.4328C>T (p.Pro1443Leu)	CFTR, LOC111674477 (P1443L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1739715	NM_000492.4(CFTR):c.4323C>G (p.Ile1441Met)	CFTR, LOC111674477 (I1441M)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1739675	NM_000492.4(CFTR):c.4319C>G (p.Ala1440Gly)	CFTR, LOC111674477 (A1440G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1739656	NM_000492.4(CFTR):c.4314G>T (p.Arg1438=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1739480	NM_000492.4(CFTR):c.4299G>C (p.Glu1433Asp)	CFTR, LOC111674477 (E1433D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1739453	NM_000492.4(CFTR):c.4292T>G (p.Leu1431Arg)	CFTR, LOC111674477 (L1431R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1739370	NM_000492.4(CFTR):c.4284G>A (p.Gln1428=)	LOC111674477, CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1739215	NM_000492.4(CFTR):c.4268A>G (p.Gln1423Arg)	CFTR, LOC111674477 (Q1423R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1739207	NM_000492.4(CFTR):c.4266G>A (p.Arg1422=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1739193	NM_000492.4(CFTR):c.4264C>G (p.Arg1422Gly)	CFTR, LOC111674477 (R1422G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1739177	NM_000492.4(CFTR):c.4261G>C (p.Val1421Leu)	CFTR, LOC111674477 (V1421L)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1739016	NM_000492.4(CFTR):c.4243-3T>C	LOC111674477, CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 1706056	NM_000492.4(CFTR):c.4443G>C (p.Ter1481Tyr)	CFTR, LOC111674477	Single nucleotide variant (stop lost)	Cystic fibrosis	GLikely pathogenic
Select item 1705126	NM_000492.4(CFTR):c.4264C>T (p.Arg1422Trp)	CFTR, LOC111674477 (R1422W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1704358	NM_000492.4(CFTR):c.4243-576A>G	CFTR, LOC111674477	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1699602	NM_000492.4(CFTR):c.4392del (p.Ile1464fs)	CFTR, LOC111674477 (I1464fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1674115	NM_000492.4(CFTR):c.4410G>A (p.Glu1470=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1663517	NM_000492.4(CFTR):c.4291C>T (p.Leu1431=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1586731	NM_000492.4(CFTR):c.4320C>T (p.Ala1440=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1560447	NM_000492.4(CFTR):c.4243-19C>G	CFTR, LOC111674477	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1539686	NM_000492.4(CFTR):c.4263G>A (p.Val1421=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1532710	NM_000492.4(CFTR):c.4243-7T>C	CFTR, LOC111674477	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1532541	NM_000492.4(CFTR):c.4243-8T>C	CFTR, LOC111674477	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1453519	NM_000492.4(CFTR):c.4387_4388del (p.Gln1463fs)	CFTR, LOC111674477 (Q1463fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1449696	NM_000492.4(CFTR):c.4427A>G (p.Gln1476Arg)	CFTR, LOC111674477 (Q1476R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1432315	NM_000492.4(CFTR):c.4327C>T (p.Pro1443Ser)	CFTR, LOC111674477 (P1443S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 1247456	NM_000492.4(CFTR):c.4242+198T>C	CFTR, LOC111674477	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1151354	NM_000492.4(CFTR):c.4336A>C (p.Arg1446=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1150041	NM_000492.4(CFTR):c.4425G>A (p.Val1475=)	LOC111674477, CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1149201	NM_000492.4(CFTR):c.4269G>A (p.Gln1423=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1141650	NM_000492.4(CFTR):c.4431T>C (p.Asp1477=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1135716	NM_000492.4(CFTR):c.4353C>T (p.Pro1451=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1085261	NM_000492.4(CFTR):c.4326C>T (p.Ser1442=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1070544	NM_000492.4(CFTR):c.4340del (p.Val1447fs)	CFTR, LOC111674477 (V1447fs)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 1044113	NM_000492.4(CFTR):c.4357C>G (p.Arg1453Gly)	CFTR, LOC111674477 (R1453G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1024644	NM_000492.4(CFTR):c.4244T>G (p.Val1415Gly)	CFTR, LOC111674477 (V1415G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 993611	NM_000492.4(CFTR):c.4265G>A (p.Arg1422Gln)	CFTR, LOC111674477 (R1422Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 964811	NM_000492.4(CFTR):c.4336A>G (p.Arg1446Gly)	CFTR, LOC111674477 (R1446G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 955878	NM_000492.4(CFTR):c.4251A>C (p.Glu1417Asp)	CFTR, LOC111674477 (E1417D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 909238	NM_000492.4(CFTR):c.4439T>C (p.Leu1480Pro)	CFTR, LOC111674477 (L1480P)	Single nucleotide variant (missense variant)	CFTR-related disorders +3 more	GUncertain significance
Select item 858353	NM_000492.4(CFTR):c.4368C>G (p.Ser1456Arg)	CFTR, LOC111674477 (S1456R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 850844	NM_000492.4(CFTR):c.4396G>T (p.Ala1466Ser)	CFTR, LOC111674477 (A1466S)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance

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