"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 242535	NM_000492.3(CFTR):c.1210-12T[5]	CFTR, CFTR-AS1	Deletion (intron variant)	CFTR-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 178713	NM_000492.4(CFTR):c.1210-11T>G	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity; other
Select item 53218	NM_000492.4(CFTR):c.1210-2A>C	CFTR, CFTR-AS1	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GPathogenic
Select item 53217	NM_000492.4(CFTR):c.1210-1G>C	CFTR, CFTR-AS1	Single nucleotide variant (splice acceptor variant)	Cystic fibrosis	GLikely pathogenic
Select item 1706072	NM_000492.4(CFTR):c.1221del (p.Glu407fs)	CFTR, CFTR-AS1 (E407fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 53220	NM_000492.4(CFTR):c.1234del (p.Ala412fs)	CFTR, CFTR-AS1 (A412fs)	Deletion (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 1457083	NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer)	CFTR, CFTR-AS1	Microsatellite (nonsense)	Cystic fibrosis	GPathogenic
Select item 53222	NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter)	CFTR, CFTR-AS1 (Q414*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 1705986	NM_000492.4(CFTR):c.1244del (p.Asn415fs)	CFTR, CFTR-AS1 (N415fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 1705987	NM_000492.4(CFTR):c.1282C>G (p.Leu428Val)	CFTR, CFTR-AS1	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 554406	NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)	CFTR, CFTR-AS1 (S434*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 560220	NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs)	CFTR-AS1, CFTR (D443fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
Select item 53229	NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	CFTR, CFTR-AS1 (D443Y)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 551988	NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)	CFTR, CFTR-AS1 (I444T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 439052	NM_000492.4(CFTR):c.1360_1381delinsATAGAAA	CFTR, CFTR-AS1	Indel	not specified +1 more	GUncertain significance
Select item 53236	NM_000492.4(CFTR):c.1366G>T (p.Val456Phe)	CFTR, CFTR-AS1 (V456F)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 2579738	NM_000492.4(CFTR):c.1368del (p.Ala457fs)	CFTR, CFTR-AS1 (A457fs)	Deletion (frameshift variant)	Cystic fibrosis	GLikely pathogenic
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 554212	NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)	CFTR-AS1, CFTR (A457P)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 1330059	NM_000492.4(CFTR):c.1388G>A (p.Gly463Asp)	CFTR, CFTR-AS1 (G463D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 53239	NM_000492.4(CFTR):c.1392+1G>A	CFTR, CFTR-AS1	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic/Likely pathogenic
Select item 1705988	NM_000492.4(CFTR):c.1394C>T (p.Thr465Ile)	CFTR, CFTR-AS1 (T465I)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 35822	NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)	CFTR, CFTR-AS1 (S466*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 53246	NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)	CFTR-AS1, CFTR (L467F)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 634836	NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)	CFTR, CFTR-AS1 (E474K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 53254	NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)	CFTR, CFTR-AS1 (G480S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 7187	NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)	CFTR, CFTR-AS1	Single nucleotide variant (missense variant)	Cystic fibrosis +2 more	GPathogenic/Likely pathogenic
Select item 1706058	NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)	CFTR, CFTR-AS1	Single nucleotide variant (missense variant)	Cystic fibrosis	GConflicting classifications of pathogenicity
Select item 53263	NM_000492.4(CFTR):c.1478A>G (p.Gln493Arg)	CFTR-AS1, CFTR (Q493R)	Single nucleotide variant (missense variant)	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 1705989	NM_000492.4(CFTR):c.1517T>A (p.Ile506Asn)	CFTR, CFTR-AS1 (I506N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 53277	NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser)	CFTR, CFTR-AS1 (I506S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 53276	NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)	CFTR, CFTR-AS1 (I506T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 53278	NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)	CFTR, CFTR-AS1 (I506M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1705990	NM_000492.4(CFTR):c.1550A>C (p.Tyr517Ser)	CFTR, CFTR-AS1 (Y517S)	Single nucleotide variant (missense variant)	Cystic fibrosis	GUncertain significance
Select item 43576	NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis +5 more	GConflicting classifications of pathogenicity
Select item 53285	NM_000492.4(CFTR):c.1584+1G>A	CFTR-AS1, CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic
Select item 53287	NM_000492.4(CFTR):c.1584+2T>C	CFTR-AS1, CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis	GPathogenic/Likely pathogenic

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Items: 40