C2749757[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - 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	CFTR, LOC111674463	Single nucleotide variant	Cystic fibrosis +3 more	GBenign/Likely benign
Select item 53622	NM_000492.4(CFTR):c.2T>C (p.Met1Thr)	CFTR (M1T)	Single nucleotide variant (missense variant +1 more)	CFTR-related condition +5 more	GPathogenic/Likely pathogenic
Select item 495928	NM_000492.4(CFTR):c.31G>A (p.Val11Ile)	CFTR (V11I)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +6 more	GUncertain significance
Select item 495946	NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)	CFTR (K14I)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
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 35893	NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	CFTR (R31C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +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)	Congenital bilateral aplasia of vas deferens from CFTR mutation +4 more	GUncertain significance
Select item 54087	NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)	CFTR (R31L)	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)	Cystic fibrosis +7 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 53269	NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)	CFTR (S50Y)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GUncertain significance
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)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
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 53549	NM_000492.4(CFTR):c.273+1G>A	CFTR	Single nucleotide variant (splice donor 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 53606	NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	CFTR (Q98R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 48688	NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	CFTR (R117C)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +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 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 497611	NM_000492.4(CFTR):c.416A>C (p.His139Pro)	CFTR (H139P)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 53912	NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)	CFTR (P140S)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 1518294	NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)	CFTR (R153K)	Single nucleotide variant (missense variant)	Cystic fibrosis +6 more	GConflicting classifications of pathogenicity
Select item 53959	NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)	CFTR (S158T)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 38799	NM_000492.4(CFTR):c.489+1G>T	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 596174	NM_000492.4(CFTR):c.489+87A>G	CFTR	Single nucleotide variant (intron variant)	Hereditary pancreatitis +4 more	GConflicting classifications of pathogenicity
Select item 632754	NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)	CFTR (T164A)	Single nucleotide variant (missense variant)	not specified +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 48692	NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)	CFTR (G178R)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy +1 more	GPathogenic; drug response
Select item 53993	NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)	CFTR (Q179K)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 54007	NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)	CFTR (E193*)	Single nucleotide variant (nonsense)	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 54018	NM_000492.4(CFTR):c.595C>T (p.His199Tyr)	CFTR (H199Y)	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 54036	NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)	CFTR (Q220*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 54041	NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	CFTR (V232D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 389270	NM_000492.4(CFTR):c.697C>G (p.Leu233Val)	CFTR (L233V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 54067	NM_000492.4(CFTR):c.842T>C (p.Met281Thr)	CFTR (M281T)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 35892	NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)	CFTR (I285F)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 54071	NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)	CFTR (N287K)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GUncertain significance
Select item 54080	NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)	CFTR (R297W)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 198738	NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)	CFTR (Y301C)	Single nucleotide variant (missense variant)	Cystic fibrosis +6 more	GUncertain significance
Select item 572004	NM_000492.4(CFTR):c.925G>A (p.Ala309Thr)	CFTR (A309T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 35895	NM_000492.4(CFTR):c.997C>T (p.Leu333Phe)	CFTR (L333F)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 7139	NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	CFTR (R334W)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53167	NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)	CFTR (S341P)	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 495887	NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)	CFTR (T388M)	Single nucleotide variant (missense variant)	CFTR-related disorders +7 more	GUncertain significance
Select item 495888	NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr)	CFTR (N396T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 229652	NM_000492.4(CFTR):c.1210-34TG[12]	CFTR, CFTR-AS1	Microsatellite (intron variant)	not provided +5 more	GBenign
Select item 818610	NM_000492.4(CFTR):c.1210-15del	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis +4 more	GLikely benign
Select item 1168489	NM_000492.4(CFTR):c.1210-13del	CFTR, CFTR-AS1	Deletion (intron variant)	Cystic fibrosis +6 more	GBenign/Likely benign
Select item 162962	NM_000492.4(CFTR):c.1210-13G>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 928981	NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)	CFTR, CFTR-AS1 (E407K)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 53224	NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser)	CFTR, CFTR-AS1 (N418S)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GUncertain significance
Select item 286406	NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)	CFTR, CFTR-AS1 (G424S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +5 more	GUncertain significance
Select item 188958	NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)	CFTR, CFTR-AS1 (I444fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
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 35821	NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	CFTR, CFTR-AS1 (V456A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53245	NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)	CFTR, CFTR-AS1 (S466L)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 35823	NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)	CFTR, CFTR-AS1 (L467P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 439478	NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)	CFTR, CFTR-AS1 (E479D)	Single nucleotide variant (missense variant)	CFTR-related condition +6 more	GUncertain significance
Select item 7155	NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)	CFTR, CFTR-AS1 (S492F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 7219	NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)	CFTR, CFTR-AS1 (Q493fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
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 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 502030	NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)	CFTR, CFTR-AS1 (E528K)	Single nucleotide variant (missense variant)	CFTR-related condition +5 more	GUncertain significance
Select item 7112	NM_000492.4(CFTR):c.1585-1G>A	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 7173	NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)	CFTR, LOC111674475	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 598095	NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr)	CFTR, LOC111674475 (I539T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
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)	ivacaftor response - Efficacy +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 7122	NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	CFTR, LOC111674475 (R553*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
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 53338	NM_000492.4(CFTR):c.1680-886A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 53341	NM_000492.4(CFTR):c.1684G>C (p.Val562Leu)	CFTR (V562L)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 35831	NM_000492.4(CFTR):c.1692del (p.Asp565fs)	CFTR	Deletion (frameshift 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 53367	NM_000492.4(CFTR):c.1742dup (p.Leu581fs)	CFTR (L581fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GPathogenic
Select item 7168	NM_000492.4(CFTR):c.1766+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 557448	NM_000492.4(CFTR):c.1766+2T>A	CFTR	Single nucleotide variant (splice donor variant)	Congenital bilateral aplasia of vas deferens from CFTR mutation +4 more	GPathogenic/Likely pathogenic
Select item 53404	NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)	CFTR (I618T)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GPathogenic/Likely pathogenic
Select item 35833	NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	CFTR (G622D)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 495905	NM_000492.4(CFTR):c.1934T>A (p.Met645Lys)	CFTR (M645K)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 550836	NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)	CFTR (F650L)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 35835	NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	CFTR (R668C)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 53427	NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter)	CFTR (G673*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 287205	NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)	CFTR (E681V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 1429889	NM_000492.4(CFTR):c.2113A>G (p.Ile705Val)	CFTR (I705V)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GUncertain significance
Select item 820807	NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)	CFTR (P718R)	Single nucleotide variant (missense variant)	Cystic fibrosis +5 more	GUncertain significance
Select item 573871	NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln)	CFTR (R785Q)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance

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