"Invitae"[submitter] AND "LOC111674475"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 526028	NC_000007.14:g.(?_117587719)_(117587867_?)del	CFTR, LOC111674475	Deletion	Cystic fibrosis	GPathogenic
Select item 552406	NM_000492.4(CFTR):c.1585-19T>C	LOC111674475, CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 557436	NM_000492.4(CFTR):c.1585-9T>C	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 35828	NM_000492.4(CFTR):c.1585-8G>A	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 1651775	NM_000492.4(CFTR):c.1585-7G>C	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1637858	NM_000492.4(CFTR):c.1585-7G>T	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1539498	NM_000492.4(CFTR):c.1585-7G>A	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 2894935	NM_000492.4(CFTR):c.1585-5A>C	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1027585	NM_000492.4(CFTR):c.1585-2A>T	LOC111674475, CFTR	Single nucleotide variant (splice acceptor variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GPathogenic/Likely pathogenic
Select item 53290	NM_000492.4(CFTR):c.1585-2A>G	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 7112	NM_000492.4(CFTR):c.1585-1G>A	CFTR, LOC111674475	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53293	NM_000492.4(CFTR):c.1586A>G (p.Asp529Gly)	LOC111674475, CFTR (D529G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 709761	NM_000492.4(CFTR):c.1587C>T (p.Asp529=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 495902	NM_000492.4(CFTR):c.1600G>T (p.Ala534Ser)	CFTR, LOC111674475 (A534S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 911099	NM_000492.4(CFTR):c.1602A>G (p.Ala534=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	CFTR-related disorders +2 more	GConflicting classifications of pathogenicity
Select item 1776268	NM_000492.4(CFTR):c.1605G>A (p.Glu535=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 595238	NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu)	CFTR, LOC111674475 (K536E)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2121909	NM_000492.4(CFTR):c.1615del (p.Asn538_Ile539insTer)	CFTR, LOC111674475	Deletion (nonsense)	Cystic fibrosis	GPathogenic
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 801150	NM_000492.4(CFTR):c.1618G>A (p.Val540Ile)	CFTR, LOC111674475 (V540I)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 2904283	NM_000492.4(CFTR):c.1619T>C (p.Val540Ala)	CFTR, LOC111674475 (V540A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 1570681	NM_000492.4(CFTR):c.1620T>C (p.Val540=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2036998	NM_000492.4(CFTR):c.1622T>C (p.Leu541Pro)	CFTR, LOC111674475 (L541P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 1434498	NM_000492.4(CFTR):c.1625del (p.Gly542fs)	CFTR, LOC111674475 (G542fs)	Deletion (frameshift 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 1577196	NM_000492.4(CFTR):c.1626A>G (p.Gly542=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1776750	NM_000492.4(CFTR):c.1629A>G (p.Glu543=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 555335	NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser)	CFTR, LOC111674475 (G544S)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance
Select item 1141267	NM_000492.4(CFTR):c.1632T>G (p.Gly544=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 1640056	NM_000492.4(CFTR):c.1638C>T (p.Ile546=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 38733	NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)	LOC111674475, CFTR (S549R)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GPathogenic; drug response
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 1559542	NM_000492.4(CFTR):c.1647T>C (p.Ser549=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
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 53312	NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter)	CFTR, LOC111674475 (G550*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7142	NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	CFTR, LOC111674475 (G551S)	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 53322	NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly)	CFTR, LOC111674475 (R553G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 7122	NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	CFTR, LOC111674475 (R553*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 7225	NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln)	CFTR, LOC111674475 (R553Q)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 7196	NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)	CFTR, LOC111674475 (I556V)	Single nucleotide variant (missense variant)	CFTR-related disorders +3 more	GConflicting classifications of pathogenicity
Select item 1153176	NM_000492.4(CFTR):c.1668T>C (p.Ile556=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 35829	NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)	CFTR, LOC111674475 (L558S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 1110814	NM_000492.4(CFTR):c.1674A>G (p.Leu558=)	CFTR, LOC111674475	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely benign
Select item 2573429	NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)	CFTR, LOC111674475 (A559P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 955475	NM_000492.4(CFTR):c.1675G>T (p.Ala559Ser)	CFTR, LOC111674475 (A559S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
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 7156	NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)	LOC111674475, CFTR (R560K)	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 286869	NM_000492.4(CFTR):c.1679+1G>A	CFTR, LOC111674475	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53335	NM_000492.4(CFTR):c.1679+1G>C	LOC111674475, CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 2051209	NM_000492.4(CFTR):c.1679+9_1679+12del	CFTR, LOC111674475	Deletion (intron variant)	Cystic fibrosis	GLikely benign
Select item 1580024	NM_000492.4(CFTR):c.1679+8A>G	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 416594	NM_000492.4(CFTR):c.1679+9C>G	CFTR, LOC111674475	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2711905	NM_000492.4(CFTR):c.1679+12_1679+15del	CFTR, LOC111674475	Deletion (intron variant)	Cystic fibrosis	GLikely benign
Select item 2561385	NM_000492.4(CFTR):c.1679+11A>G	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2841162	NM_000492.4(CFTR):c.1679+14T>C	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2705262	NM_000492.4(CFTR):c.1679+16T>A	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 53333	NM_000492.4(CFTR):c.1679+16T>C	CFTR, LOC111674475	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2726279	NM_000492.4(CFTR):c.1679+17T>G	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2447406	NM_000492.4(CFTR):c.1679+17T>C	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2885471	NM_000492.4(CFTR):c.1679+18G>C	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 633160	NM_000492.4(CFTR):c.1679+18G>T	CFTR, LOC111674475	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 53334	NM_000492.4(CFTR):c.1679+18G>A	CFTR, LOC111674475	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3023512	NM_000492.4(CFTR):c.1679+19G>A	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 1131750	NM_000492.4(CFTR):c.1679+34G>T	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign
Select item 2189642	NM_000492.4(CFTR):c.1680-1071A>G	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GBenign
Select item 162965	NM_000492.4(CFTR):c.1680-981T>C	CFTR, LOC111674475	Single nucleotide variant (intron variant)	Cystic fibrosis	GLikely benign

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Items: 70