C3151136[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 23

	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 +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)	Primary ciliary dyskinesia 14 +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 663046	NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys)	TTC14, CCDC39 (R829C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 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)	Primary ciliary dyskinesia 14 +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
Select item 419341	NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter)	CCDC39 (Y742*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 262967	NM_181426.2(CCDC39):c.2159-16A>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 220134	NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser)	CCDC39 (N686S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1012311	NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs)	CCDC39 (C680fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1070026	NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs)	CCDC39 (E655fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 14 +1 more	GPathogenic/Likely pathogenic
Select item 410380	NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys)	CCDC39 (R629C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 344268	NM_181426.2(CCDC39):c.1363-13del	CCDC39	Deletion (intron variant)	Primary ciliary dyskinesia 14 +1 more	GBenign/Likely benign
Select item 344270	NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg)	CCDC39 (S453R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 661055	NM_181426.2(CCDC39):c.1045del (p.Thr349fs)	CCDC39 (T349fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 242176	NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)	CCDC39 (T277fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 525300	NM_181426.2(CCDC39):c.610_613del	CCDC39	Deletion (splice acceptor variant)	Primary ciliary dyskinesia 14 +1 more	GPathogenic/Likely pathogenic
Select item 1521515	NM_181426.2(CCDC39):c.531A>G (p.Gln177=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 31067	NM_181426.2(CCDC39):c.357+1G>C	CCDC39	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 14 +3 more	GPathogenic
Select item 569732	NM_181426.2(CCDC39):c.137G>A (p.Arg46His)	CCDC39 (R46H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 525369	NM_181426.2(CCDC39):c.64GAG[1] (p.Glu23del)	CCDC39 (E23del)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 835336	NM_181426.2(CCDC39):c.2T>C (p.Met1Thr)	CCDC39 (M1T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity

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Items: 23