ClinVar (all) for Orgtrack (Select 509610) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336657	NM_000492.4(CFTR):c.1435G>C (p.Glu479Gln)	CFTR, CFTR-AS1 (E479Q)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336656	NM_000492.4(CFTR):c.1490T>A (p.Ile497Asn)	CFTR, CFTR-AS1 (I497N)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336655	NM_000492.4(CFTR):c.1508A>G (p.Lys503Arg)	CFTR, CFTR-AS1 (K503R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336654	NM_000492.4(CFTR):c.1428G>T (p.Glu476Asp)	CFTR, CFTR-AS1 (E476D)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336653	NM_000492.4(CFTR):c.1562T>C (p.Ile521Thr)	CFTR, CFTR-AS1 (I521T)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336652	NM_000492.4(CFTR):c.1559T>C (p.Val520Ala)	CFTR, CFTR-AS1 (V520A)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336651	NM_000750.5(CHRNB4):c.1411G>C (p.Val471Leu)	CHRNB4 (V471L)	Single nucleotide variant (missense variant +1 more)	Chronic obstructive pulmonary disease	GPathogenic
Select item 3336650	NC_000012.12:g.47906043T>C	VDR	Single nucleotide variant	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336649	NM_000583.4(GC):c.1327_1328insT (p.Asn443fs)	GC (N443fs +1 more)	Insertion (frameshift variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336648	NM_000583.4(GC):c.1324dup (p.Val442fs)	GC (V442fs +1 more)	Duplication (frameshift variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336647	NM_000583.4(GC):c.1330A>T (p.Lys444Ter)	GC (K444* +1 more)	Single nucleotide variant (nonsense)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336646	NM_000583.4(GC):c.1364T>C (p.Ile455Thr)	GC (I455T +1 more)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336645	NM_000583.4(GC):c.1375_1376insG (p.Pro459fs)	GC (P459fs +1 more)	Insertion (frameshift variant)	Chronic obstructive pulmonary disease	GUncertain significance
Select item 3336644	NM_000583.4(GC):c.1349C>G (p.Ser450Cys)	GC (S450C +1 more)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336643	NM_000583.4(GC):c.1328del (p.Asn443fs)	GC (N443fs +1 more)	Deletion (frameshift variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336642	NM_000583.4(GC):c.1322_1323insTG (p.Val442fs)	GC (V442fs +1 more)	Insertion (frameshift variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336641	NM_000583.4(GC):c.1368C>A (p.Asn456Lys)	GC (N456K +1 more)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336640	NM_001013619.4(HYKK):c.337+256T>C	HYKK	Single nucleotide variant (intron variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336639	NM_000492.4(CFTR):c.1424T>G (p.Leu475Arg)	CFTR, CFTR-AS1 (L475R)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336638	NM_000492.4(CFTR):c.1529T>G (p.Val510Gly)	CFTR, CFTR-AS1 (V510G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336637	NM_000492.4(CFTR):c.1447A>G (p.Lys483Glu)	CFTR, CFTR-AS1 (K483E)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336636	NM_000492.4(CFTR):c.1574A>C (p.Gln525Pro)	CFTR, CFTR-AS1 (Q525P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336635	NM_000492.4(CFTR):c.1409T>G (p.Val470Gly)	CFTR, CFTR-AS1 (V470G)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336634	NM_000492.4(CFTR):c.1398A>T (p.Ser466=)	CFTR, CFTR-AS1	Single nucleotide variant (synonymous variant)	Cystic fibrosis	GLikely pathogenic
Select item 3336633	NM_000492.4(CFTR):c.1534T>C (p.Tyr512His)	CFTR, CFTR-AS1 (Y512H)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic
Select item 3242552	NM_000583.4(GC):c.1366A>T (p.Asn456Tyr)	GC (N456Y +1 more)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	GPathogenic
Select item 1774855	NM_000492.4(CFTR):c.1541A>G (p.Glu514Gly)	CFTR, CFTR-AS1 (E514G)	Single nucleotide variant (missense variant)	CFTR-related disorder +1 more	GUncertain significance
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 732690	NM_000583.4(GC):c.1333C>T (p.His445Tyr)	GC (H445Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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Items: 29