"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TTC14"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 344261	NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys)	CCDC39, TTC14 (R876C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 455022	NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys)	CCDC39, TTC14 (T872K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 219718	NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala)	CCDC39, TTC14 (T850A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 663046	NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys)	CCDC39, TTC14 (R829C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 162838	NM_181426.2(CCDC39):c.2432G>A (p.Arg811His)	CCDC39, TTC14 (R811H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1068490	NM_181426.2(CCDC39):c.2335C>T (p.Gln779Ter)	CCDC39, TTC14 (Q779*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 902127	NM_181426.2(CCDC39):c.2291T>C (p.Ile764Thr)	CCDC39, TTC14 (I764T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance

ClinVar