C3151136[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +2 more	GUncertain significance
Select item 838859	NM_181426.2(CCDC39):c.2358_2362del (p.Ser786fs)	CCDC39, TTC14 (S786fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1322039	NM_181426.2(CCDC39):c.2061dup (p.Ala688fs)	CCDC39 (A688fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 14	GPathogenic
Select item 1322038	NM_181426.2(CCDC39):c.1999-2A>T	CCDC39	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1322040	NM_181426.2(CCDC39):c.1456dup (p.Glu486fs)	CCDC39 (E486fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 14	GPathogenic
Select item 452875	NM_181426.2(CCDC39):c.1387C>T (p.Arg463Trp)	CCDC39 (R463W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 2439796	NM_181426.2(CCDC39):c.749G>A (p.Arg250Lys)	CCDC39 (R250K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 216140	NM_181426.2(CCDC39):c.610-2A>G	CCDC39	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 14 +1 more	GPathogenic
Select item 31067	NM_181426.2(CCDC39):c.357+1G>C	CCDC39	Single nucleotide variant (splice donor variant)	CCDC39-related condition +3 more	GPathogenic