"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162962	NM_000492.4(CFTR):c.1210-13G>T	CFTR, CFTR-AS1	Single nucleotide variant (intron variant)	Cystic fibrosis +7 more	GBenign/Likely benign
Select item 161188	NM_000492.3(CFTR):c.1210-12T[9]	CFTR, CFTR-AS1	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
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 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 48685	NM_000492.4(CFTR):c.1766+5G>T	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 53465	NM_000492.4(CFTR):c.2260G>A (p.Val754Met)	CFTR (V754M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +4 more	GConflicting classifications of pathogenicity
Select item 455769	NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)	CFTR (F834L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 7229	NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	CFTR, LOC111674472 (L997F)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 35869	NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)	CFTR	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 93154	NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)	CFTR	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +4 more	GConflicting classifications of pathogenicity
Select item 93155	NM_000492.4(CFTR):c.4242+13A>G	CFTR	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 93156	NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +4 more	GConflicting classifications of pathogenicity
Select item 93157	NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)	CFTR, LOC111674477	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +4 more	GBenign/Likely benign