C5924204[trait identifier] AND "Natera, Inc."[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 51027	NM_000492.4(CFTR):c.-887C>T	LOC111674463, CFTR	Single nucleotide variant	Cystic fibrosis +3 more	GBenign/Likely benign
Select item 553817	NM_000492.4(CFTR):c.-602A>T	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis	GUncertain significance
Select item 53158	NM_000492.4(CFTR):c.-9_14del (p.Met1fs)	CFTR, LOC111674463 (M1fs)	Deletion (frameshift variant +1 more)	Cystic fibrosis	GPathogenic
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 53622	NM_000492.4(CFTR):c.2T>C (p.Met1Thr)	CFTR (M1T)	Single nucleotide variant (missense variant +1 more)	Cystic fibrosis +4 more	GPathogenic/Likely pathogenic
Select item 987858	NM_000492.4(CFTR):c.5A>C (p.Gln2Pro)	CFTR (Q2P)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 53211	NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)	CFTR (S4*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 53944	NM_000492.4(CFTR):c.50dup (p.Ser18fs)	CFTR (S18fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 53984	NM_000492.4(CFTR):c.50del (p.Phe17fs)	CFTR (F17fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53988	NM_000492.4(CFTR):c.53+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 940464	NM_000492.4(CFTR):c.53+3G>C	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 487391	NM_000492.4(CFTR):c.57G>A (p.Trp19Ter)	CFTR (W19*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 416596	NM_000492.4(CFTR):c.66A>G (p.Pro22=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 965976	NM_000492.4(CFTR):c.70T>G (p.Leu24Val)	CFTR (L24V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 575729	NM_000492.4(CFTR):c.76A>G (p.Lys26Glu)	CFTR (K26E)	Single nucleotide variant (missense variant)	CFTR-related disorder +2 more	GUncertain significance
Select item 54061	NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)	CFTR (G27*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54081	NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)	CFTR (Q30*)	Single nucleotide variant (nonsense)	Cystic fibrosis	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 554829	NM_000492.4(CFTR):c.92G>A (p.Arg31His)	CFTR (R31H)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 53204	NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)	CFTR (Q39*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 860424	NM_000492.4(CFTR):c.117A>C (p.Gln39His)	CFTR (Q39H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
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 929223	NM_000492.4(CFTR):c.134C>G (p.Ser45Cys)	CFTR (S45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 772644	NM_000492.4(CFTR):c.147A>G (p.Leu49=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 53269	NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)	CFTR (S50Y)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 53303	NM_000492.4(CFTR):c.164+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53306	NM_000492.4(CFTR):c.164+2T>C	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
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 53314	NM_000492.4(CFTR):c.165-1G>A	CFTR, LOC113664106	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53343	NM_000492.4(CFTR):c.168del (p.Glu56fs)	CFTR, LOC113664106 (E56fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53355	NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)	CFTR, LOC113664106 (W57*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7179	NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)	CFTR, LOC113664106 (W57*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53373	NM_000492.4(CFTR):c.174_177del (p.Asp58fs)	CFTR, LOC113664106 (D58fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 487400	NM_000492.4(CFTR):c.175dup (p.Arg59fs)	CFTR, LOC113664106 (R59fs)	Duplication (frameshift 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 820179	NM_000492.4(CFTR):c.184G>C (p.Ala62Pro)	CFTR, LOC113664106 (A62P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 950371	NM_000492.4(CFTR):c.212A>G (p.Asn71Ser)	CFTR (N71S)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
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 35839	NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	CFTR (R75Q)	Single nucleotide variant (missense variant)	not provided +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 821041	NM_000492.4(CFTR):c.228T>G (p.Cys76Trp)	CFTR (C76W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 928495	NM_000492.4(CFTR):c.234dup (p.Trp79fs)	CFTR (W79fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 1035472	NM_000492.4(CFTR):c.242T>A (p.Phe81Tyr)	CFTR (F81Y)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 557120	NM_000492.4(CFTR):c.244A>G (p.Met82Val)	CFTR (M82V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 7143	NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	CFTR (G85E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 581675	NM_000492.4(CFTR):c.256A>G (p.Ile86Val)	CFTR (I86V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
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 53534	NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)	CFTR (L88*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53532	NM_000492.4(CFTR):c.263T>A (p.Leu88Ter)	CFTR (L88*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 7183	NM_000492.4(CFTR):c.271G>A (p.Gly91Arg)	CFTR (G91R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53549	NM_000492.4(CFTR):c.273+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
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 618914	NM_000492.4(CFTR):c.274-2A>C	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 53556	NM_000492.4(CFTR):c.274-2A>G	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 48680	NM_000492.4(CFTR):c.274-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7186	NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)	CFTR (E92*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7181	NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)	CFTR (E92K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53600	NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)	CFTR (Q98*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 53637	NM_000492.4(CFTR):c.303dup (p.Leu102fs)	CFTR (L102fs)	Duplication (frameshift variant)	Cystic fibrosis +1 more	GPathogenic
Select item 53653	NM_000492.4(CFTR):c.310del (p.Arg104fs)	CFTR (R104fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 48684	NM_000492.4(CFTR):c.313del (p.Ile105fs)	CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53665	NM_000492.4(CFTR):c.314T>A (p.Ile105Asn)	CFTR (I105N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 7108	NM_000492.4(CFTR):c.328G>C (p.Asp110His)	CFTR (D110H)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 53714	NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)	CFTR (D110E)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 53720	NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	CFTR (P111L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 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 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 526016	NM_000492.4(CFTR):c.359C>T (p.Ala120Val)	CFTR (A120V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 1018653	NM_000492.4(CFTR):c.364T>A (p.Tyr122Asn)	CFTR (Y122N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 38833	NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter)	CFTR (Y122*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 411116	NM_000492.4(CFTR):c.372C>T (p.Gly124=)	CFTR	Single nucleotide variant (synonymous variant)	not provided +1 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 717017	NM_000492.4(CFTR):c.390C>G (p.Leu130=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 416592	NM_000492.4(CFTR):c.393T>C (p.Phe131=)	CFTR	Single nucleotide variant (synonymous variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 53887	NM_000492.4(CFTR):c.409del (p.Leu137fs)	CFTR (L137fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 848508	NM_000492.4(CFTR):c.413T>C (p.Leu138Pro)	CFTR (L138P)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
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 569342	NM_000492.4(CFTR):c.424A>G (p.Ile142Val)	CFTR (I142V)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 7146	NM_000492.4(CFTR):c.424del (p.Ile142fs)	CFTR (I142fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 7147	NM_000492.4(CFTR):c.429del (p.Phe143fs)	CFTR (F143fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic

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