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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 51029	NM_000492.4(CFTR):c.-812T>G	CFTR, LOC111674463	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 189027	NC_000007.14:g.117479634A>G	LOC111674463, CFTR	Single nucleotide variant	Hereditary pancreatitis +2 more	GConflicting classifications of pathogenicity
Select item 51031	NM_000492.4(CFTR):c.-226G>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 618013	NM_000492.4(CFTR):c.-16C>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1330548	NM_000492.4(CFTR):c.-9C>T	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 93148	NM_000492.4(CFTR):c.-8G>C	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	CFTR-related disorder +4 more	GBenign/Likely benign
Select item 53157	NM_000492.4(CFTR):c.-4G>C	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis +2 more	GBenign/Likely benign
Select item 53423	NM_000492.4(CFTR):c.1A>G (p.Met1Val)	CFTR (M1V)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis	GPathogenic
Select item 35824	NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	CFTR (P5L)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GPathogenic/Likely pathogenic
Select item 618014	NM_000492.4(CFTR):c.26C>T (p.Ala9Val)	CFTR (A9V)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 439071	NM_000492.4(CFTR):c.29G>A (p.Ser10Asn)	CFTR (S10N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 495928	NM_000492.4(CFTR):c.31G>A (p.Val11Ile)	CFTR (V11I)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 495943	NM_000492.4(CFTR):c.40A>G (p.Lys14Glu)	CFTR (K14E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 495946	NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)	CFTR (K14I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 634833	NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)	CFTR (L15P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 618565	NM_000492.4(CFTR):c.51del (p.Phe17fs)	CFTR (F17fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 35893	NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	CFTR (R31C)	Single nucleotide variant (missense variant)	CFTR-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 502597	NM_000492.4(CFTR):c.94C>A (p.Leu32Met)	CFTR (L32M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 35819	NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)	CFTR (S42F)	Single nucleotide variant (missense variant)	CFTR-related disorder +6 more	GUncertain significance
Select item 811961	NM_000492.4(CFTR):c.127G>A (p.Val43Ile)	CFTR (V43I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 593277	NM_000492.4(CFTR):c.137C>T (p.Ala46Val)	CFTR (A46V)	Single nucleotide variant (missense variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +3 more	GUncertain significance
Select item 53302	NM_000492.4(CFTR):c.164+12T>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 235283	NM_000492.4(CFTR):c.164+28A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 53347	NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)	LOC113664106, CFTR (W57G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 38730	NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)	CFTR, LOC113664106 (E60*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53425	NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	CFTR (P67L)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 196277	NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)	CFTR (R74W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53456	NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)	CFTR (R74Q)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 48672	NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)	CFTR (R75*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53461	NM_000492.4(CFTR):c.224G>T (p.Arg75Leu)	CFTR (R75L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 35839	NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	CFTR (R75Q)	Single nucleotide variant (missense variant)	CFTR-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 53475	NM_000492.4(CFTR):c.233dup (p.Trp79fs)	CFTR (W79fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 2567868	NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)	CFTR (G85R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 7143	NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	CFTR (G85E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7232	NM_000492.4(CFTR):c.262_263del (p.Leu88fs)	CFTR (L88fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 946044	NM_000492.4(CFTR):c.260T>C (p.Phe87Ser)	CFTR (F87S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 961121	NM_000492.4(CFTR):c.264A>C (p.Leu88Phe)	CFTR (L88F)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 53541	NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys)	CFTR (Y89C)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 7199	NM_000492.4(CFTR):c.273+4A>G	CFTR	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 237855	NM_000492.4(CFTR):c.274-6T>C	CFTR	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 554723	NM_000492.4(CFTR):c.290T>C (p.Val97Ala)	CFTR (V97A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 53606	NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	CFTR (Q98R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 993348	NM_000492.4(CFTR):c.295C>G (p.Pro99Ala)	CFTR (P99A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 53705	NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)	CFTR (D110Y)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 53720	NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	CFTR (P111L)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GConflicting classifications of pathogenicity
Select item 811595	NM_000492.4(CFTR):c.333G>A (p.Pro111=)	CFTR	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 811082	NM_000492.4(CFTR):c.335A>G (p.Asp112Gly)	CFTR (D112G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 53754	NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)	CFTR (E116K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53762	NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)	CFTR (R117G)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GPathogenic/Likely pathogenic
Select item 48688	NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	CFTR (R117C)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 7109	NM_000492.4(CFTR):c.350G>A (p.Arg117His)	CFTR (R117H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 35870	NM_000492.4(CFTR):c.355A>G (p.Ile119Val)	CFTR (I119V)	Single nucleotide variant (missense variant)	CFTR-related disorder +3 more	GUncertain significance
Select item 994151	NM_000492.4(CFTR):c.357C>T (p.Ile119=)	CFTR	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 53774	NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)	CFTR (A120T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 493462	NM_000492.4(CFTR):c.360G>A (p.Ala120=)	CFTR	Single nucleotide variant (synonymous variant)	CFTR-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 411120	NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys)	CFTR (Y122C)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 53802	NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)	CFTR (I125T)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 53812	NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	CFTR (G126D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53842	NM_000492.4(CFTR):c.388C>G (p.Leu130Val)	CFTR (L130V)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 993898	NM_000492.4(CFTR):c.394_398del (p.Ile132fs)	CFTR (I132fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 53912	NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)	CFTR (P140S)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +6 more	GUncertain significance
Select item 38850	NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	CFTR (I148T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 53953	NM_000492.4(CFTR):c.451C>A (p.Gln151Lys)	CFTR (Q151K)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GUncertain significance
Select item 439479	NM_000492.4(CFTR):c.454A>T (p.Met152Leu)	CFTR (M152L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 439481	NM_000492.4(CFTR):c.464C>G (p.Ala155Gly)	CFTR (A155G)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 53962	NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)	CFTR (L159S)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 38799	NM_000492.4(CFTR):c.489+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53971	NM_000492.4(CFTR):c.489+3A>G	CFTR	Single nucleotide variant (intron variant)	Hereditary pancreatitis +5 more	GConflicting classifications of pathogenicity
Select item 632754	NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)	CFTR (T164A)	Single nucleotide variant (missense variant)	CFTR-related disorder +6 more	GUncertain significance
Select item 455782	NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)	CFTR (R170C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 53983	NM_000492.4(CFTR):c.509G>A (p.Arg170His)	CFTR (R170H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +6 more	GConflicting classifications of pathogenicity
Select item 811725	NM_000492.4(CFTR):c.514C>A (p.Leu172Ile)	CFTR (L172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343489	NM_000492.4(CFTR):c.529A>T (p.Ile177Phe)	CFTR (I177F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 53991	NM_000492.4(CFTR):c.531del (p.Ile177fs)	CFTR (I177fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53993	NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)	CFTR (Q179K)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 993804	NM_000492.4(CFTR):c.554C>A (p.Ser185Tyr)	CFTR (S185Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 495953	NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	CFTR (F191V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54007	NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)	CFTR (E193*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54010	NM_000492.4(CFTR):c.579+3A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 1330401	NM_000492.4(CFTR):c.580G>T (p.Gly194Ter)	CFTR (G194*)	Single nucleotide variant (nonsense)	Cystic fibrosis +1 more	GPathogenic
Select item 54016	NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	CFTR (G194V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GConflicting classifications of pathogenicity
Select item 54018	NM_000492.4(CFTR):c.595C>T (p.His199Tyr)	CFTR (H199Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 54022	NM_000492.4(CFTR):c.601G>A (p.Val201Met)	CFTR (V201M)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 54026	NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)	CFTR (P205S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7190	NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	CFTR (L206W)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 411118	NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)	CFTR (G213E)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 54033	NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)	CFTR (W216*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7238	NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	CFTR (E217G)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 290978	NM_000492.4(CFTR):c.663G>A (p.Ala221=)	CFTR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 54041	NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	CFTR (V232D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1330412	NM_000492.4(CFTR):c.697C>T (p.Leu233Phe)	CFTR (L233F)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 811381	NM_000492.4(CFTR):c.708del (p.Gln237fs)	CFTR (Q237fs)	Deletion (frameshift variant)	not specified +2 more	GPathogenic
Select item 54046	NM_000492.4(CFTR):c.715G>A (p.Gly239Arg)	CFTR (G239R)	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GUncertain significance
Select item 555450	NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)	CFTR (R248G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 256256	NM_000492.4(CFTR):c.743+40A>G	CFTR	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 439486	NM_000492.4(CFTR):c.744-34_744-31del	CFTR	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 35889	NM_000492.4(CFTR):c.744-33GATT[8]	CFTR	Microsatellite (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 439476	NM_000492.4(CFTR):c.744-33GATT[5]	CFTR	Microsatellite (intron variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 43579	NM_000492.4(CFTR):c.744-33GATT[6]	CFTR	Microsatellite (intron variant)	Cystic fibrosis +2 more	GBenign
Select item 54055	NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	CFTR (R258G)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GConflicting classifications of pathogenicity

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