"Dr Mariam's Lab, University of the Punjab"[submitter] AND "CFTR-AS1"[ - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 1774855	NM_000492.4(CFTR):c.1541A>G (p.Glu514Gly)	CFTR, CFTR-AS1 (E514G)	Single nucleotide variant (missense variant)	Cystic fibrosis +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 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 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 3336636	NM_000492.4(CFTR):c.1574A>C (p.Gln525Pro)	CFTR, CFTR-AS1 (Q525P)	Single nucleotide variant (missense variant)	Cystic fibrosis	GLikely pathogenic