C3151136[trait identifier] AND "ARUP Laboratories, Molecular Genetics - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162838	NM_181426.2(CCDC39):c.2432G>A (p.Arg811His)	CCDC39, TTC14 (R811H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +3 more	GBenign/Likely benign
Select item 219954	NM_181426.2(CCDC39):c.2299T>C (p.Leu767=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 14 +3 more	GConflicting classifications of pathogenicity
Select item 226484	NM_181426.2(CCDC39):c.2278A>G (p.Thr760Ala)	TTC14, CCDC39 (T760A)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1026730	NM_181426.2(CCDC39):c.1969G>A (p.Glu657Lys)	CCDC39 (E657K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 262962	NM_181426.2(CCDC39):c.1528-43A>G	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 14 +3 more	GBenign
Select item 226483	NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)	CCDC39 (Q478R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +3 more	GBenign/Likely benign
Select item 166806	NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile)	CCDC39 (T358I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +3 more	GConflicting classifications of pathogenicity
Select item 262978	NM_181426.2(CCDC39):c.930+12C>G	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 14 +3 more	GBenign
Select item 525559	NM_181426.2(CCDC39):c.272A>G (p.Gln91Arg)	CCDC39 (Q91R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity