C0010674[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10	NM_000410.4(HFE):c.187C>G (p.His63Asp)	HFE, HFE-AS1 (H63D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +9 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
Select item 38730	NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)	CFTR, LOC113664106 (E60*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 48672	NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)	CFTR (R75*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 984340	NM_000492.4(CFTR):c.269T>A (p.Leu90Ter)	CFTR (L90*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 53549	NM_000492.4(CFTR):c.273+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 35846	NM_000492.4(CFTR):c.273+3A>C	CFTR	Single nucleotide variant (intron 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 1726826	NM_000492.4(CFTR):c.283A>T (p.Lys95Ter)	CFTR (K95*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 48684	NM_000492.4(CFTR):c.313del (p.Ile105fs)	CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1456427	NM_000492.4(CFTR):c.332del (p.Pro111fs)	CFTR (P111fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 7109	NM_000492.4(CFTR):c.350G>A (p.Arg117His)	CFTR (R117H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1726896	NM_000492.4(CFTR):c.441_442del (p.Ile148fs)	CFTR (I148fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 53948	NM_000492.4(CFTR):c.442del (p.Ile148fs)	CFTR (I148fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1725366	NM_000492.4(CFTR):c.480_483del (p.Tyr161fs)	CFTR (Y161fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 38799	NM_000492.4(CFTR):c.489+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 1724047	NM_000492.4(CFTR):c.502_503del (p.Ser168fs)	CFTR (S168fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 1725568	NM_000492.4(CFTR):c.520_530del (p.Lys174fs)	CFTR (K174fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 53991	NM_000492.4(CFTR):c.531del (p.Ile177fs)	CFTR (I177fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 48692	NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)	CFTR (G178R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 1726781	NM_000492.4(CFTR):c.534_538del (p.Gln179fs)	CFTR (Q179fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 38494	NM_000492.4(CFTR):c.579+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 54012	NM_000492.4(CFTR):c.579+5G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 54014	NM_000492.4(CFTR):c.580-1G>T	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 1726890	NM_000492.4(CFTR):c.617T>A (p.Leu206Ter)	CFTR (L206*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
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 984341	NM_000492.4(CFTR):c.741C>A (p.Tyr247Ter)	CFTR (Y247*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 984342	NM_000492.4(CFTR):c.742A>T (p.Arg248Ter)	CFTR (R248*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 984343	NM_000492.4(CFTR):c.751A>T (p.Arg251Ter)	CFTR (R251*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 1725929	NM_000492.4(CFTR):c.772del (p.Arg258fs)	CFTR (R258fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 48700	NM_000492.4(CFTR):c.803del (p.Asn268fs)	CFTR (N268fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 984344	NM_000492.4(CFTR):c.817A>T (p.Lys273Ter)	CFTR (K273*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 1724369	NM_000492.4(CFTR):c.915_916del (p.Phe305fs)	CFTR (F305fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 7163	NM_000492.4(CFTR):c.948del (p.Phe316fs)	CFTR	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 48708	NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)	CFTR	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7139	NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	CFTR (R334W)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7193	NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)	CFTR (T338I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7182	NM_000492.4(CFTR):c.1040G>A (p.Arg347His)	CFTR (R347H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7110	NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)	CFTR (R347P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7198	NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)	CFTR (R352Q)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 487393	NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)	CFTR (N386fs)	Microsatellite (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1725985	NM_000492.4(CFTR):c.1171G>T (p.Glu391Ter)	CFTR, CFTR-AS1 (E391*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 242535	NM_000492.3(CFTR):c.1210-12T[5]	CFTR, CFTR-AS1	Deletion (intron variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +6 more	GConflicting classifications of pathogenicity
Select item 7111	NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	CFTR, CFTR-AS1 (A455E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7187	NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)	CFTR, CFTR-AS1	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GPathogenic/Likely pathogenic
Select item 984345	NM_000492.4(CFTR):c.1447A>T (p.Lys483Ter)	CFTR, CFTR-AS1 (K483*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 1724432	NM_000492.4(CFTR):c.1472_1482del (p.Cys491fs)	CFTR, CFTR-AS1 (C491fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 7107	NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)	CFTR, CFTR-AS1 (Q493*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 1724124	NM_000492.4(CFTR):c.1483del (p.Ser495fs)	CFTR, CFTR-AS1 (S495fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 984346	NM_000492.4(CFTR):c.1488G>A (p.Trp496Ter)	CFTR, CFTR-AS1 (W496*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 7106	NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	CFTR, CFTR-AS1 (I507del)	Microsatellite (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 984347	NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter)	CFTR, CFTR-AS1 (E514*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 7140	NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)	CFTR, CFTR-AS1	Microsatellite (nonsense)	Cystic fibrosis	GPathogenic
Select item 1725285	NM_000492.4(CFTR):c.1547_1550del (p.Arg516fs)	CFTR-AS1, CFTR (R516fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 7150	NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)	CFTR, CFTR-AS1 (V520F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7151	NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)	CFTR, CFTR-AS1 (C524*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7112	NM_000492.4(CFTR):c.1585-1G>A	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7115	NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	CFTR, LOC111674475 (G542*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7116	NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)	CFTR, LOC111674475 (S549N)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 40190	NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	CFTR, LOC111674475 (S549R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
Select item 7120	NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	CFTR, LOC111674475 (G551D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7201	NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)	CFTR, LOC111674475 (Q552*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7122	NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	CFTR, LOC111674475 (R553*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 1726206	NM_000492.4(CFTR):c.1663A>T (p.Arg555Ter)	CFTR, LOC111674475 (R555*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 1725150	NM_000492.4(CFTR):c.1672_1673del (p.Leu558fs)	CFTR, LOC111674475 (L558fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 1724744	NM_000492.4(CFTR):c.1673T>A (p.Leu558Ter)	CFTR, LOC111674475 (L558*)	Single nucleotide variant (nonsense)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GLikely pathogenic
Select item 7123	NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)	CFTR, LOC111674475 (A559T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7113	NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)	CFTR, LOC111674475 (R560T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 48681	NM_000492.4(CFTR):c.1680-1G>A	CFTR	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7119	NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	CFTR (P574H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 983576	NM_000492.4(CFTR):c.1731C>A (p.Tyr577Ter)	CFTR (Y577*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 1724451	NM_000492.4(CFTR):c.1735_1736del (p.Asp579fs)	CFTR (D579fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 53377	NM_000492.4(CFTR):c.1766+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 7168	NM_000492.4(CFTR):c.1766+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 48685	NM_000492.4(CFTR):c.1766+5G>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 1724404	NM_000492.4(CFTR):c.1778_1779del (p.Lys593fs)	CFTR (K593fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 53396	NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)	CFTR	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 1725798	NM_000492.4(CFTR):c.1822del (p.Glu608fs)	CFTR (E608fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 983577	NM_000492.4(CFTR):c.1861G>T (p.Glu621Ter)	CFTR (E621*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 1725476	NM_000492.4(CFTR):c.1867_1869delinsG (p.Ser623fs)	CFTR (S623fs)	Indel (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 1724371	NM_000492.4(CFTR):c.1893_1897del (p.Glu632fs)	CFTR (E632fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 35834	NM_000492.4(CFTR):c.1911del (p.Gln637fs)	CFTR (Q637fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 38735	NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs)	CFTR (S641fs)	Indel (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 983578	NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter)	CFTR (R657*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 983579	NM_000492.4(CFTR):c.1997T>A (p.Leu666Ter)	CFTR (L666*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic
Select item 35836	NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)	CFTR	Deletion (nonsense)	Cystic fibrosis	GPathogenic
Select item 35838	NM_000492.4(CFTR):c.2052dup (p.Gln685fs)	CFTR (Q685fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 38493	NM_000492.4(CFTR):c.2052del (p.Lys684fs)	CFTR (K684fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 35837	NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs)	CFTR (K684fs)	Indel (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53440	NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)	CFTR (R709*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7203	NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)	CFTR (K710*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7185	NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)	CFTR (E726fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1725208	NM_000492.4(CFTR):c.2241del (p.Ile748fs)	CFTR (I748fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 1726109	NM_000492.4(CFTR):c.2283dup (p.Gln762fs)	CFTR (Q762fs)	Duplication (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 53471	NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)	CFTR (R764*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 1724398	NM_000492.4(CFTR):c.2379del (p.Val794fs)	CFTR (V794fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 983580	NM_000492.4(CFTR):c.2410G>T (p.Glu804Ter)	CFTR (E804*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GLikely pathogenic

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